[go: up one dir, main page]

PL3591073T3 - Sposoby wykrywania rzadkich mutacji i zmienności liczby kopii - Google Patents

Sposoby wykrywania rzadkich mutacji i zmienności liczby kopii

Info

Publication number
PL3591073T3
PL3591073T3 PL19192885T PL19192885T PL3591073T3 PL 3591073 T3 PL3591073 T3 PL 3591073T3 PL 19192885 T PL19192885 T PL 19192885T PL 19192885 T PL19192885 T PL 19192885T PL 3591073 T3 PL3591073 T3 PL 3591073T3
Authority
PL
Poland
Prior art keywords
methods
copy number
number variation
rare mutations
detect rare
Prior art date
Application number
PL19192885T
Other languages
English (en)
Inventor
AmirAli TALASAZ
Helmy Eltoukhy
Original Assignee
Guardant Health, Inc.
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=50237580&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=PL3591073(T3) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Guardant Health, Inc. filed Critical Guardant Health, Inc.
Publication of PL3591073T3 publication Critical patent/PL3591073T3/pl

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/10Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034Isolating an individual clone by screening libraries
    • C12N15/1065Preparation or screening of tagged libraries, e.g. tagged microorganisms by STM-mutagenesis, tagged polynucleotides, gene tags
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • C12Q1/6874Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2537/00Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/165Mathematical modelling, e.g. logarithm, ratio
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2545/00Reactions characterised by their quantitative nature
    • C12Q2545/10Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer sets for multiplex assays

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pathology (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Biomedical Technology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Silver Salt Photography Or Processing Solution Therefor (AREA)
  • Investigating Or Analysing Materials By The Use Of Chemical Reactions (AREA)
  • Indexing, Searching, Synchronizing, And The Amount Of Synchronization Travel Of Record Carriers (AREA)
PL19192885T 2012-09-04 2013-09-04 Sposoby wykrywania rzadkich mutacji i zmienności liczby kopii PL3591073T3 (pl)

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US201261696734P 2012-09-04 2012-09-04
US201261704400P 2012-09-21 2012-09-21
US201361793997P 2013-03-15 2013-03-15
US201361845987P 2013-07-13 2013-07-13
EP18207391.6A EP3470533B2 (en) 2012-09-04 2013-09-04 Systems and methods to detect copy number variation
EP19192885.2A EP3591073B1 (en) 2012-09-04 2013-09-04 Methods to detect rare mutations and copy number variation
PCT/US2013/058061 WO2014039556A1 (en) 2012-09-04 2013-09-04 Systems and methods to detect rare mutations and copy number variation
EP13834427.0A EP2893040B1 (en) 2012-09-04 2013-09-04 Methods to detect rare mutations and copy number variation

Publications (1)

Publication Number Publication Date
PL3591073T3 true PL3591073T3 (pl) 2022-03-28

Family

ID=50237580

Family Applications (2)

Application Number Title Priority Date Filing Date
PL19192885T PL3591073T3 (pl) 2012-09-04 2013-09-04 Sposoby wykrywania rzadkich mutacji i zmienności liczby kopii
PL13834427T PL2893040T3 (pl) 2012-09-04 2013-09-04 Sposoby wykrywania rzadkich mutacji i wariantu liczby kopii

Family Applications After (1)

Application Number Title Priority Date Filing Date
PL13834427T PL2893040T3 (pl) 2012-09-04 2013-09-04 Sposoby wykrywania rzadkich mutacji i wariantu liczby kopii

Country Status (17)

Country Link
US (29) US10041127B2 (pl)
EP (6) EP3470533B2 (pl)
JP (6) JP6275145B2 (pl)
KR (5) KR102210852B1 (pl)
CN (2) CN110872617A (pl)
CA (2) CA3190199A1 (pl)
DE (1) DE202013012824U1 (pl)
DK (1) DK2893040T5 (pl)
ES (5) ES2769241T5 (pl)
GB (1) GB2533006B (pl)
HK (1) HK1225416B (pl)
IL (3) IL269097B2 (pl)
MX (1) MX367963B (pl)
PL (2) PL3591073T3 (pl)
PT (1) PT2893040T (pl)
SG (2) SG10202000486VA (pl)
WO (1) WO2014039556A1 (pl)

Families Citing this family (350)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US8916344B2 (en) 2010-11-15 2014-12-23 Exact Sciences Corporation Methylation assay
US8361720B2 (en) 2010-11-15 2013-01-29 Exact Sciences Corporation Real time cleavage assay
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
JP6054303B2 (ja) 2010-12-30 2016-12-27 ファウンデーション メディシン インコーポレイテッドFoundation Medicine, Inc. 腫瘍試料の多重遺伝子分析の最適化
EP2673729B1 (en) 2011-02-09 2018-10-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
CN103748236B (zh) 2011-04-15 2018-12-25 约翰·霍普金斯大学 安全测序系统
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
US20130079241A1 (en) 2011-09-15 2013-03-28 Jianhua Luo Methods for Diagnosing Prostate Cancer and Predicting Prostate Cancer Relapse
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
PL2805280T3 (pl) 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
PT2814959T (pt) 2012-02-17 2018-04-12 Hutchinson Fred Cancer Res Composições e métodos para a identificação exata de mutações
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
ES2828661T3 (es) 2012-03-20 2021-05-27 Univ Washington Through Its Center For Commercialization Métodos para reducir la tasa de error de la secuenciación de ADN masiva en paralelo mediante el uso de la secuenciación de secuencia consenso bicatenaria
EP2844771A4 (en) * 2012-05-04 2015-12-02 Complete Genomics Inc METHOD FOR DETERMINING THE ABSOLUTE GENOME-WIDE COPY COUNTER CHANGES OF COMPLEX TUMORS
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20150011396A1 (en) 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
DE202013012824U1 (de) 2012-09-04 2020-03-10 Guardant Health, Inc. Systeme zum Erfassen von seltenen Mutationen und einer Kopienzahlvariation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2013338393C1 (en) 2012-10-29 2024-07-25 The Johns Hopkins University Papanicolaou test for ovarian and endometrial cancers
US9218450B2 (en) * 2012-11-29 2015-12-22 Roche Molecular Systems, Inc. Accurate and fast mapping of reads to genome
US9932576B2 (en) 2012-12-10 2018-04-03 Resolution Bioscience, Inc. Methods for targeted genomic analysis
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HK1222684A1 (zh) 2013-03-15 2017-07-07 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
EP2971130A4 (en) 2013-03-15 2016-10-05 Nugen Technologies Inc SEQUENTIAL SEQUENCING
US10930368B2 (en) 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3578670B1 (en) 2013-05-24 2025-07-02 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102447079B1 (ko) 2013-06-21 2022-09-23 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
AU2014329493B2 (en) 2013-10-04 2020-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
KR102373647B1 (ko) 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
MX383494B (es) 2013-11-07 2025-03-14 Univ Leland Stanford Junior Ácidos nucleicos libres de células para el análisis del microbioma humano y componentes del mismo.
CN105849264B (zh) 2013-11-13 2019-09-27 纽亘技术公司 用于鉴别重复测序读数的组合物和方法
EP3771745A1 (en) 2013-12-28 2021-02-03 Guardant Health, Inc. Methods and systems for detecting genetic variants
ES2818625T3 (es) 2013-12-30 2021-04-13 Univ Pittsburgh Commonwealth Sys Higher Education Genes de fusión asociados con el cáncer de próstata progresivo
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
EP3805404A1 (en) 2014-05-13 2021-04-14 Board of Regents, The University of Texas System Gene mutations and copy number alterations of egfr, kras and met
WO2015181718A1 (en) * 2014-05-26 2015-12-03 Ebios Futura S.R.L. Method of prenatal diagnosis
WO2015183872A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
WO2015184404A1 (en) * 2014-05-30 2015-12-03 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2016011428A1 (en) 2014-07-17 2016-01-21 University Of Pittsburgh - Of The Commonwealth System Of Higher Education Methods of treating cells containing fusion genes
GB201412834D0 (en) 2014-07-18 2014-09-03 Cancer Rec Tech Ltd A method for detecting a genetic variant
EP3169813B1 (en) 2014-07-18 2019-06-12 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in dna mixture
JP2017522908A (ja) 2014-07-25 2017-08-17 ユニヴァーシティ オブ ワシントン セルフリーdnaを生じる組織及び/又は細胞タイプを決定する方法、並びにそれを用いて疾患又は異常を識別する方法
US20160034640A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10102337B2 (en) 2014-08-06 2018-10-16 Nugen Technologies, Inc. Digital measurements from targeted sequencing
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
US10184154B2 (en) 2014-09-26 2019-01-22 Mayo Foundation For Medical Education And Research Detecting cholangiocarcinoma
EP4112738B1 (en) 2014-12-05 2024-07-24 Foundation Medicine, Inc. Multigene analysis of tumor samples
WO2016090584A1 (zh) * 2014-12-10 2016-06-16 深圳华大基因研究院 确定肿瘤核酸浓度的方法和装置
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
WO2016095093A1 (zh) * 2014-12-15 2016-06-23 天津华大基因科技有限公司 肿瘤筛查方法、目标区域变异检测方法和装置
EP3235010A4 (en) 2014-12-18 2018-08-29 Agilome, Inc. Chemically-sensitive field effect transistor
US9618474B2 (en) 2014-12-18 2017-04-11 Edico Genome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
CA2970345A1 (en) * 2014-12-29 2016-07-07 Counsyl, Inc. Method for determining genotypes in regions of high homology
WO2016109452A1 (en) * 2014-12-31 2016-07-07 Guardant Health , Inc. Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
ES2908347T3 (es) 2015-02-10 2022-04-28 Univ Hong Kong Chinese Detección de mutaciones para cribado de cáncer y análisis fetal
CN107532124B (zh) 2015-03-27 2022-08-09 精密科学公司 检测食管疾病
CA2983833C (en) 2015-05-01 2024-05-14 Guardant Health, Inc. Diagnostic methods
DK3294906T3 (en) 2015-05-11 2024-08-05 Natera Inc Methods for determining ploidy
US10395759B2 (en) * 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
EP4450636A3 (en) 2015-05-18 2025-01-01 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
CN107849600A (zh) * 2015-06-09 2018-03-27 生命技术公司 用于分子标记的方法、系统、组合物、试剂盒、装置和计算机可读媒体
CN107408163B (zh) * 2015-06-24 2021-03-05 吉尼努斯公司 用于分析基因的方法及装置
CN107922973B (zh) * 2015-07-07 2019-06-14 远见基因组系统公司 用于基于测序的变型检测的方法和系统
EP3322816B1 (en) * 2015-07-13 2020-01-01 Agilent Technologies Belgium NV System and methodology for the analysis of genomic data obtained from a subject
EP3325667B1 (en) 2015-07-21 2020-11-11 Guardant Health, Inc. Locked nucleic acids for capturing fusion genes
AU2016295616B2 (en) 2015-07-23 2022-06-02 The Chinese University Of Hong Kong Analysis of fragmentation patterns of cell-free DNA
CN108138220A (zh) * 2015-07-29 2018-06-08 普罗格尼迪公司 遗传分析的系统和方法
ES2745556T3 (es) 2015-07-29 2020-03-02 Progenity Inc Acidos nucleicos y métodos para detectar anomalías cromosómicas
CA2994848C (en) 2015-08-07 2021-08-10 University Of Pittsburgh-Of The Commonwealth System Of Higher Education Methods for predicting prostate cancer relapse
WO2017027653A1 (en) 2015-08-11 2017-02-16 The Johns Hopkins University Assaying ovarian cyst fluid
US11302416B2 (en) 2015-09-02 2022-04-12 Guardant Health Machine learning for somatic single nucleotide variant detection in cell-free tumor nucleic acid sequencing applications
WO2017044609A1 (en) * 2015-09-08 2017-03-16 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
EP4462438A3 (en) 2015-10-09 2025-02-26 Guardant Health, Inc. Population based treatment recommender using cell free dna
KR101848438B1 (ko) 2015-10-29 2018-04-13 바이오코아 주식회사 디지털 pcr을 이용한 산전진단 방법
EP3998353A1 (en) * 2015-10-30 2022-05-18 Exact Sciences Corporation Multiplex amplification detection assay and isolation and detection of dna from plasma
AU2016353133B2 (en) 2015-11-11 2022-12-08 Resolution Bioscience, Inc. High efficiency construction of dna libraries
US20180330050A1 (en) * 2015-11-16 2018-11-15 Mayo Foundation For Medical Education And Research Detecting copy number variations
JP6975507B2 (ja) 2015-12-08 2021-12-01 ツインストランド・バイオサイエンシズ・インコーポレイテッドTwinstrand Biosciences, Inc. 二本鎖配列決定のための改善されたアダプター、方法、及び組成物
CN108603228B (zh) * 2015-12-17 2023-09-01 夸登特健康公司 通过分析无细胞dna确定肿瘤基因拷贝数的方法
WO2017127741A1 (en) * 2016-01-22 2017-07-27 Grail, Inc. Methods and systems for high fidelity sequencing
CN116640847A (zh) 2016-02-02 2023-08-25 夸登特健康公司 癌症进化检测和诊断
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
WO2017161175A1 (en) * 2016-03-16 2017-09-21 Dana-Farber Cancer Institute, Inc. Methods for genome characterization
WO2017165864A1 (en) 2016-03-25 2017-09-28 Karius, Inc. Synthetic nucleic acid spike-ins
US20190085406A1 (en) 2016-04-14 2019-03-21 Guardant Health, Inc. Methods for early detection of cancer
US11384382B2 (en) 2016-04-14 2022-07-12 Guardant Health, Inc. Methods of attaching adapters to sample nucleic acids
ES2913468T3 (es) 2016-04-15 2022-06-02 Natera Inc Métodos para la detección del cáncer de pulmón.
ITUA20162640A1 (it) * 2016-04-15 2017-10-15 Menarini Silicon Biosystems Spa Metodo e kit per la generazione di librerie di dna per sequenziamento massivo parallelo
US20170298422A1 (en) 2016-04-18 2017-10-19 The Board Of Trustees Of The Leland Stanford Junior University Simultaneous single-molecule epigenetic imaging of dna methylation and hydroxymethylation
US10811539B2 (en) 2016-05-16 2020-10-20 Nanomedical Diagnostics, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
WO2017201102A1 (en) 2016-05-16 2017-11-23 Accuragen Holdings Limited Method of improved sequencing by strand identification
WO2017212428A1 (en) * 2016-06-07 2017-12-14 The Regents Of The University Of California Cell-free dna methylation patterns for disease and condition analysis
AU2017290237B2 (en) 2016-06-30 2020-10-22 GRAIL, Inc Differential tagging of RNA for preparation of a cell-free DNA/RNA sequencing library
CN107577917A (zh) * 2016-07-05 2018-01-12 魏霖静 一种生物信息学高性能信息化管理系统及数据处理方法
JP7448310B2 (ja) 2016-07-06 2024-03-12 ガーダント ヘルス, インコーポレイテッド セルフリー核酸のフラグメントームプロファイリングのための方法
EP3485035B1 (en) 2016-07-15 2024-07-03 The Regents of the University of California Methods of producing nucleic acid libraries
EP3491560A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Genetic copy number alteration classifications
CN117286217A (zh) 2016-08-25 2023-12-26 分析生物科学有限公司 用于检测dna样品中基因组拷贝变化的方法
WO2018057770A1 (en) * 2016-09-22 2018-03-29 Illumina, Inc. Somatic copy number variation detection
WO2018064629A1 (en) 2016-09-30 2018-04-05 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
EP4656736A2 (en) 2016-10-12 2025-12-03 Bellwether Bio, Inc. Determining cell type origin of circulating cell-free dna with molecular counting
CN110100013A (zh) 2016-10-24 2019-08-06 香港中文大学 用于肿瘤检测的方法和系统
WO2018081465A1 (en) * 2016-10-26 2018-05-03 Pathway Genomics Corporation Systems and methods for characterizing nucleic acid in a biological sample
CN106566877A (zh) * 2016-10-31 2017-04-19 天津诺禾致源生物信息科技有限公司 检测基因突变的方法和装置
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
CN110023509A (zh) 2016-11-15 2019-07-16 私人基因诊断公司 基因型分型测定中的非独特条形码
KR20230062684A (ko) 2016-11-30 2023-05-09 더 차이니즈 유니버시티 오브 홍콩 소변 및 기타 샘플에서의 무세포 dna의 분석
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN110383385B (zh) * 2016-12-08 2023-07-25 生命科技股份有限公司 从肿瘤样品中检测突变负荷的方法
US20180166170A1 (en) * 2016-12-12 2018-06-14 Konstantinos Theofilatos Generalized computational framework and system for integrative prediction of biomarkers
AU2017382439B2 (en) 2016-12-22 2024-08-08 Guardant Health, Inc. Methods and systems for analyzing nucleic acid molecules
CN106701956A (zh) * 2017-01-11 2017-05-24 上海思路迪生物医学科技有限公司 ctDNA的数字化深度测序技术
EP4235676A3 (en) 2017-01-20 2023-10-18 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
US10633713B2 (en) 2017-01-25 2020-04-28 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
KR102667067B1 (ko) 2017-01-27 2024-05-17 이그젝트 싸이언스 디블롭먼트 컴패니, 엘엘씨 메틸화된 dna 분석에 의한 결장 신조직형성의 검출
US10894976B2 (en) 2017-02-21 2021-01-19 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
CN106755547A (zh) * 2017-03-15 2017-05-31 上海亿康医学检验所有限公司 一种膀胱癌的无创检测及其复发监测方法
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
US11584958B2 (en) 2017-03-31 2023-02-21 Grail, Llc Library preparation and use thereof for sequencing based error correction and/or variant identification
EP3610034B1 (en) 2017-04-12 2022-06-08 Karius, Inc. Sample preparation methods, systems and compositions
US11342047B2 (en) * 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
ES2989479T3 (es) * 2017-05-15 2024-11-26 Univ Leuven Kath Método para analizar ácidos nucleicos libres de células
WO2018213235A1 (en) * 2017-05-16 2018-11-22 Life Technologies Corporation Methods for compression of molecular tagged nucleic acid sequence data
ES2991960T3 (es) * 2017-05-16 2024-12-05 Guardant Health Inc Identificación del origen somático o germinal del ADN libre de células
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
EP3635133A4 (en) * 2017-06-09 2021-03-03 Bellwether Bio, Inc. DETERMINATION OF THE TYPE OF CANCER IN A SUBJECT BY PROBABILISTIC MODELING OF END POINTS OF CIRCULATING NUCLEIC ACID FRAGMENT
JP7009518B2 (ja) * 2017-06-20 2022-01-25 イルミナ インコーポレイテッド 既知又は未知の遺伝子型の複数のコントリビューターからのdna混合物の分解及び定量化のための方法並びにシステム
US20250006375A1 (en) * 2017-07-12 2025-01-02 University Health Network Cancer detection and classification using methylome analysis
WO2019014656A1 (en) 2017-07-14 2019-01-17 Han Si Ping METALLIC OLIGONUCLEOTIDE JONCTIONS FOR THE ADMINISTRATION OF THERAPEUTIC AGENTS
EP3431611A1 (en) 2017-07-21 2019-01-23 Menarini Silicon Biosystems S.p.A. Improved method and kit for the generation of dna libraries for massively parallel sequencing
IL272030B2 (en) 2017-07-26 2025-03-01 Univ Hong Kong Chinese Enhancement of cancer screening using cell-free viral nucleic acids
CA3071855C (en) 2017-08-04 2021-09-14 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
CA3202766A1 (en) 2017-08-04 2019-02-07 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
CN111868260B (zh) 2017-08-07 2025-02-21 约翰斯霍普金斯大学 用于评估和治疗癌症的方法和材料
CN111630166B (zh) 2017-08-10 2024-04-19 希望之城 条件性-siRNA及其在治疗心肌肥大中的用途
CN111357054B (zh) 2017-09-20 2024-07-16 夸登特健康公司 用于区分体细胞变异和种系变异的方法和系统
CN107688726B (zh) * 2017-09-21 2021-09-07 深圳市易基因科技有限公司 基于液相捕获技术判定单基因病相关拷贝数缺失的方法
US11099202B2 (en) 2017-10-20 2021-08-24 Tecan Genomics, Inc. Reagent delivery system
EP3704265A4 (en) 2017-11-03 2021-09-29 Guardant Health, Inc. CORRECTION OF SEQUENCE ERRORS INDUCED BY DESAMINATION
EP4549588A3 (en) 2017-11-03 2025-07-23 Guardant Health, Inc. Normalizing tumor mutation burden
SG11202003885UA (en) 2017-11-08 2020-05-28 Twinstrand Biosciences Inc Reagents and adapters for nucleic acid sequencing and methods for making such reagents and adapters
JP7054133B2 (ja) 2017-11-09 2022-04-13 国立研究開発法人国立がん研究センター 配列解析方法、配列解析装置、参照配列の生成方法、参照配列生成装置、プログラム、および記録媒体
US12154664B2 (en) 2017-11-16 2024-11-26 Illumina, Inc. Systems and methods for determining microsatellite instability
AU2018375302A1 (en) * 2017-11-28 2020-06-11 Grail, Llc Models for targeted sequencing
JP7299169B2 (ja) 2017-12-01 2023-06-27 イルミナ インコーポレイテッド 体細胞突然変異のクローン性を決定するための方法及びシステム
US10648025B2 (en) 2017-12-13 2020-05-12 Exact Sciences Development Company, Llc Multiplex amplification detection assay II
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
CN108197428B (zh) * 2017-12-25 2020-06-19 西安交通大学 一种并行动态规划的下一代测序技术拷贝数变异检测方法
CN112365927B (zh) * 2017-12-28 2023-08-25 安诺优达基因科技(北京)有限公司 Cnv检测装置
SG11202006110UA (en) 2018-01-05 2020-07-29 Billiontoone Inc Quality control templates for ensuring validity of sequencing-based assays
WO2019140201A1 (en) 2018-01-12 2019-07-18 Claret Bioscience, Llc Methods and compositions for analyzing nucleic acid
KR102689425B1 (ko) * 2018-01-15 2024-07-29 일루미나, 인코포레이티드 심층 학습 기반 변이체 분류자
CN108268752B (zh) * 2018-01-18 2019-02-01 东莞博奥木华基因科技有限公司 一种染色体异常检测装置
KR102036609B1 (ko) * 2018-02-12 2019-10-28 바이오코아 주식회사 디지털 pcr을 이용한 산전진단 방법
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
GB201804642D0 (en) * 2018-03-22 2018-05-09 Inivata Ltd Methods of labelling nucleic acids
US11203782B2 (en) 2018-03-29 2021-12-21 Accuragen Holdings Limited Compositions and methods comprising asymmetric barcoding
CN112236520B (zh) 2018-04-02 2025-01-24 格里尔公司 甲基化标记和标靶甲基化探针板
CN112334983A (zh) 2018-04-13 2021-02-05 夸登特健康公司 用于检测和抑制由融合事件引起的比对错误的方法
WO2019200228A1 (en) 2018-04-14 2019-10-17 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna
US20210155992A1 (en) * 2018-04-16 2021-05-27 Memorial Sloan Kettering Cancer Center SYSTEMS AND METHODS FOR DETECTING CANCER VIA cfDNA SCREENING
US20210180112A1 (en) * 2018-04-20 2021-06-17 Biofire Diagnostics, Llc Methods for normalization and quantification of sequencing data
WO2019209954A1 (en) * 2018-04-24 2019-10-31 Grail, Inc. Systems and methods for using pathogen nucleic acid load to determine whether a subject has a cancer condition
TW202410055A (zh) 2018-06-01 2024-03-01 美商格瑞爾有限責任公司 用於資料分類之卷積神經網路系統及方法
JP2021526791A (ja) 2018-06-04 2021-10-11 ガーダント ヘルス, インコーポレイテッド セルフリー核酸の細胞起源を決定するための方法およびシステム
JP7537748B2 (ja) 2018-06-06 2024-08-21 ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニア 核酸ライブラリを生成する方法ならびにそれを実施するための組成物およびキット
SG11202011696TA (en) 2018-06-11 2020-12-30 Foundation Medicine Inc Compositions and methods for evaluating genomic alterations
CN109192246B (zh) * 2018-06-22 2020-10-16 深圳市达仁基因科技有限公司 检测染色体拷贝数异常的方法、装置和存储介质
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
US12073922B2 (en) 2018-07-11 2024-08-27 Illumina, Inc. Deep learning-based framework for identifying sequence patterns that cause sequence-specific errors (SSEs)
NZ759884A (en) * 2018-07-11 2023-01-27 Illumina Inc Deep learning-based framework for identifying sequence patterns that cause sequence-specific errors (sses)
BR112021000409A2 (pt) 2018-07-12 2021-04-06 Twinstrand Biosciences, Inc. Métodos e reagentes para caracterizar edição genômica, expansão clonal e aplicações associadas
CA3107983A1 (en) 2018-07-23 2020-01-30 Guardant Health, Inc. Methods and systems for adjusting tumor mutational burden by tumor fraction and coverage
US20210292851A1 (en) * 2018-07-27 2021-09-23 Roche Sequencing Solutions, Inc. Method of monitoring effectiveness of immunotherapy of cancer patients
WO2020033425A1 (en) 2018-08-06 2020-02-13 Billiontoone, Inc. Dilution tagging for quantification of biological targets
CN113166750B (zh) 2018-08-10 2025-02-18 希望之城 可编程的条件性sirna及其用途
CN113574602A (zh) * 2018-08-22 2021-10-29 加利福尼亚大学董事会 从循环无细胞核酸中灵敏地检测拷贝数变异(cnv)
WO2020047513A1 (en) 2018-08-30 2020-03-05 Guardant Health, Inc. Methods and systems for detecting contamination between samples
US20200075123A1 (en) 2018-08-31 2020-03-05 Guardant Health, Inc. Genetic variant detection based on merged and unmerged reads
WO2020047378A1 (en) 2018-08-31 2020-03-05 Guardant Health, Inc. Microsatellite instability detection in cell-free dna
JP7637615B2 (ja) 2018-09-04 2025-02-28 ガーダント ヘルス, インコーポレイテッド 無細胞核酸試料におけるアレル不均衡を検出するための方法およびシステム
KR20210058888A (ko) * 2018-09-14 2021-05-24 더 잭슨 래보라토리 게놈 중 복제수 변이를 검출하기 위한 방법 및 장치
CA3111887A1 (en) 2018-09-27 2020-04-02 Grail, Inc. Methylation markers and targeted methylation probe panel
EP3815005A4 (en) * 2018-10-08 2022-03-30 Freenome Holdings, Inc. Transcription factor profiling
CN109523520B (zh) * 2018-10-25 2020-12-18 北京大学第三医院 一种基于深度学习的染色体自动计数方法
EP4524263A3 (en) 2018-10-31 2025-05-28 Guardant Health, Inc. Methods, compositions and systems for calibrating epigenetic partitioning assays
EP4428234A3 (en) 2018-11-21 2024-09-25 Karius, Inc. Direct-to-library methods, systems, and compositions
CN109584961A (zh) * 2018-12-03 2019-04-05 元码基因科技(北京)股份有限公司 基于二代测序技术检测血液微卫星不稳定的方法
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
US20200202975A1 (en) * 2018-12-19 2020-06-25 AiOnco, Inc. Genetic information processing system with mutation analysis mechanism and method of operation thereof
CN109712671B (zh) * 2018-12-20 2020-06-26 北京优迅医学检验实验室有限公司 基于ctDNA的基因检测装置、存储介质及计算机系统
US20200232010A1 (en) 2018-12-20 2020-07-23 Guardant Health, Inc. Methods, compositions, and systems for improving recovery of nucleic acid molecules
CN111383714B (zh) * 2018-12-29 2023-07-28 安诺优达基因科技(北京)有限公司 模拟目标疾病仿真测序文库的方法及其应用
JP7573536B2 (ja) 2019-01-31 2024-10-25 ガーダント ヘルス, インコーポレイテッド 無細胞dnaを単離するための組成物および方法
CN109841265B (zh) * 2019-02-22 2021-09-21 清华大学 使用片段化模式确定血浆游离核酸分子组织来源的方法和系统及应用
AU2020228058B2 (en) 2019-02-27 2025-03-27 Guardant Health, Inc. Computational modeling of loss of function based on allelic frequency
WO2020176659A1 (en) 2019-02-27 2020-09-03 Guardant Health, Inc. Methods and systems for determining the cellular origin of cell-free dna
CN111755075B (zh) * 2019-03-28 2023-09-29 深圳华大生命科学研究院 对免疫组库高通量测序样本间序列污染进行过滤的方法
EP3947718A4 (en) 2019-04-02 2022-12-21 Enumera Molecular, Inc. METHODS, SYSTEMS AND COMPOSITIONS FOR COUNTING NUCLEIC ACID MOLECULES
EP3723096A1 (en) * 2019-04-12 2020-10-14 European Molecular Biology Laboratory Comprehensive detection of single cell genetic structural variations
CN110299185B (zh) * 2019-05-08 2023-07-04 西安电子科技大学 一种基于新一代测序数据的插入变异检测方法及系统
WO2020243722A1 (en) * 2019-05-31 2020-12-03 Guardant Health, Inc. Methods and systems for improving patient monitoring after surgery
WO2020247263A1 (en) 2019-06-06 2020-12-10 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
CN114585751A (zh) * 2019-06-12 2022-06-03 阿尔缇玛基因组学公司 使用分子条形码进行准确碱基判定的方法
US12437840B2 (en) 2019-07-02 2025-10-07 International Business Machines Corporation Determining cell, tissue, or lesion representations in cell-free DNA
WO2021067484A1 (en) 2019-09-30 2021-04-08 Guardant Health, Inc. Compositions and methods for analyzing cell-free dna in methylation partitioning assays
JP7667145B2 (ja) * 2019-10-10 2025-04-22 カールスバーグ アグシャセルスガーブ 変異体植物の調製方法
CN110578002A (zh) * 2019-10-10 2019-12-17 广州燃石医学检验所有限公司 用于检测循环肿瘤dna突变的质控品及其制备方法
JP2022553164A (ja) 2019-10-25 2022-12-22 ガーダント ヘルス, インコーポレイテッド 3’オーバーハングを修復する方法
WO2021077411A1 (zh) * 2019-10-25 2021-04-29 苏州宏元生物科技有限公司 染色体不稳定性检测方法、系统及试剂盒
CN114467144B (zh) * 2019-10-25 2025-06-20 首尔大学校产学协力团 减少测序平台特异性错误的体细胞突变检测装置及方法
CN118374597A (zh) 2019-11-06 2024-07-23 斯坦福大学托管董事会 用于分析核酸分子的方法和系统
EP4065725B1 (en) 2019-11-26 2025-05-21 Guardant Health, Inc. Methods, compositions and systems for improving the binding of methylated polynucleotides
KR102184277B1 (ko) * 2020-01-16 2020-11-30 성균관대학교산학협력단 초음파 진단 및 dna 검사 일체형 ai 자가 건강 관리 장치 및 이를 이용한 원격 의료 진단 방법
JP7763764B2 (ja) 2020-01-31 2025-11-04 ガーダント ヘルス, インコーポレイテッド 標的バリアントがクローンレベルで存在しないことの有意性モデリング
US12059674B2 (en) 2020-02-03 2024-08-13 Tecan Genomics, Inc. Reagent storage system
CA3170345A1 (en) 2020-02-14 2021-08-19 The Johns Hopkins University Methods and materials for assessing nucleic acids
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
JP2023517029A (ja) 2020-03-11 2023-04-21 ガーダント ヘルス, インコーポレイテッド 無細胞核酸において検出された遺伝的突然変異を、腫瘍起源または非腫瘍起源として分類するための方法
CN111445950B (zh) * 2020-03-19 2022-10-25 西安交通大学 一种基于滤波策略的高容错基因组复杂结构变异检测方法
CN113436679B (zh) * 2020-03-23 2024-05-10 北京合生基因科技有限公司 确定待测核酸样本变异率的方法和系统
EP4143338A1 (en) 2020-04-30 2023-03-08 Guardant Health, Inc. Methods for sequence determination using partitioned nucleic acids
WO2021231862A1 (en) * 2020-05-14 2021-11-18 Georgia Tech Research Corporation Methods of detecting the efficacy of anticancer agents
EP4150113A1 (en) 2020-05-14 2023-03-22 Guardant Health, Inc. Homologous recombination repair deficiency detection
WO2021228418A1 (en) 2020-05-15 2021-11-18 Universal Diagnostics, S.L. Methods and systems for identifying methylation biomarkers
WO2023282916A1 (en) 2021-07-09 2023-01-12 Guardant Health, Inc. Methods of detecting genomic rearrangements using cell free nucleic acids
EP4179111B1 (en) 2020-07-10 2024-04-03 Guardant Health, Inc. Methods of detecting genomic rearrangements using cell free nucleic acids
EP4189111B1 (en) 2020-07-30 2025-02-19 Guardant Health, Inc. Methods for isolating cell-free dna
AU2021333661A1 (en) 2020-08-25 2023-03-23 Seer, Inc. Compositions and methods for assaying proteins and nucleic acids
JP2023540221A (ja) 2020-08-25 2023-09-22 ガーダント ヘルス, インコーポレイテッド バリアントの起源を予測するための方法およびシステム
EP4205122A2 (en) 2020-08-27 2023-07-05 Guardant Health, Inc. Computational detection of copy number variation at a locus in the absence of direct measurement of the locus
JP2023544721A (ja) 2020-09-30 2023-10-25 ガーダント ヘルス, インコーポレイテッド 分配およびメチル化依存性ヌクレアーゼを使用してdnaを解析するための組成物および方法
EP4232599A1 (en) 2020-10-23 2023-08-30 Guardant Health, Inc. Compositions and methods for analyzing dna using partitioning and base conversion
EP4251765A1 (en) 2020-11-30 2023-10-04 Guardant Health, Inc. Compositions and methods for enriching methylated polynucleotides
EP4267757A1 (en) 2020-12-23 2023-11-01 Guardant Health, Inc. Methods and systems for analyzing methylated polynucleotides
CN112735516A (zh) * 2020-12-29 2021-04-30 上海派森诺生物科技股份有限公司 一种无参考基因组的群体变异检测分析方法
CN112908411B (zh) * 2021-01-12 2024-05-14 广州市金域转化医学研究院有限公司 一种线粒体变异位点数据库及其建立方法和应用
WO2022174109A1 (en) 2021-02-12 2022-08-18 Guardant Health, Inc. Methods and compositions for detecting nucleic acid variants
KR20230156364A (ko) 2021-03-05 2023-11-14 가던트 헬쓰, 인크. 분자 반응을 분석하기 위한 방법 및 관련 측면
JP2024512372A (ja) 2021-03-09 2024-03-19 ガーダント ヘルス, インコーポレイテッド オフターゲットポリヌクレオチド配列決定データに基づく腫瘍の存在の検出
JP2024511425A (ja) 2021-03-25 2024-03-13 ガーダント ヘルス, インコーポレイテッド 免疫細胞dnaを定量するための方法および組成物
CN113130005B (zh) * 2021-04-12 2022-11-22 中国科学院东北地理与农业生态研究所 一种基于m2群体的候选因果突变位点基因定位的方法
US11783912B2 (en) 2021-05-05 2023-10-10 The Board Of Trustees Of The Leland Stanford Junior University Methods and systems for analyzing nucleic acid molecules
EP4348249A1 (en) 2021-05-28 2024-04-10 Guardant Health, Inc. Compositions and methods for assaying circulating molecules
CN113284555B (zh) * 2021-06-11 2023-08-22 中山大学 一种基因突变网络的构建方法、装置、设备及存储介质
WO2022271730A1 (en) 2021-06-21 2022-12-29 Guardant Health, Inc. Methods and compositions for copy-number informed tissue-of-origin analysis
WO2023283551A1 (en) * 2021-07-06 2023-01-12 Switch Therapeutics Inc. Methods of designing conditional-activatable small interfering rna sensors
WO2023018791A1 (en) * 2021-08-10 2023-02-16 Cornell University Ultra-sensitive liquid biopsy through deep learning empowered whole genome sequencing of plasma
EP4409024A1 (en) 2021-09-30 2024-08-07 Guardant Health, Inc. Compositions and methods for synthesis and use of probes targeting nucleic acid rearrangements
CA3233805A1 (en) * 2021-10-04 2023-04-13 The Chinese University Of Hong Kong Sequencing of viral dna for predicting disease relapse
WO2023081722A2 (en) 2021-11-02 2023-05-11 Guardant Health, Inc. Quality control method
WO2023097325A2 (en) * 2021-11-29 2023-06-01 Mammoth Biosciences, Inc. Systems and methods for identifying genetic phenotypes using programmable nucleases
CN114703263B (zh) * 2021-12-20 2023-09-22 北京科迅生物技术有限公司 一种群组染色体拷贝数变异检测方法及装置
WO2023122623A1 (en) 2021-12-21 2023-06-29 Guardant Health, Inc. Methods and systems for combinatorial chromatin-ip sequencing
EP4453240A1 (en) 2021-12-23 2024-10-30 Guardant Health, Inc. Compositions and methods for detection of metastasis
WO2023183812A2 (en) 2022-03-21 2023-09-28 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring
EP4504971A1 (en) 2022-04-07 2025-02-12 Guardant Health, Inc. Detecting the presence of a tumor based on methylation status of cell-free nucleic acid molecules
CN114724628B (zh) * 2022-04-24 2022-11-08 华中农业大学 一种对多物种进行多核苷酸变异鉴定和注释的方法
US20230360725A1 (en) 2022-05-09 2023-11-09 Guardant Health, Inc. Detecting degradation based on strand bias
JP2025522763A (ja) 2022-06-30 2025-07-17 ガーダント ヘルス, インコーポレイテッド 異常にメチル化されたdnaの富化
CN119923475A (zh) 2022-07-21 2025-05-02 夸登特健康公司 用于检测和减少样品制备诱导的甲基化人为假象的方法
EP4587843A1 (en) 2022-09-16 2025-07-23 Guardant Health, Inc. Compositions and methods for analyzing soluble proteins
WO2024073508A2 (en) 2022-09-27 2024-04-04 Guardant Health, Inc. Methods and compositions for quantifying immune cell dna
KR20250110272A (ko) 2022-11-15 2025-07-18 가던트 헬쓰, 인크. 순환 종양 dna (ctdna)로부터 기준선 ctdna 수준 및 시간 경과에 따른 ctdna 수준의 종단적 변화 둘 다로부터의 신호를 이용하여 비소세포 폐암 (nsclc) 환자 약물 반응 또는 사망 또는 암 진행까지의 시간을 예측하는 방법
AU2023379633A1 (en) 2022-11-17 2025-05-15 Guardant Health, Inc. Validation of a bioinformatic model for classifying non-tumor variants in a cell-free dna liquid biopsy assay
EP4639548A1 (en) 2022-12-21 2025-10-29 Guardant Health, Inc. Detecting homologous recombination deficiences based on methylation status of cell-free nucleic acid molecules
EP4638782A2 (en) 2022-12-22 2025-10-29 Guardant Health, Inc. Integrated targeted and whole genome somatic and dna methylation sequencing workflows
WO2024137880A2 (en) 2022-12-22 2024-06-27 Guardant Health, Inc. Methods involving methylation preserving amplification with error correction
EP4649489A1 (en) 2023-01-11 2025-11-19 Guardant Health, Inc. Joint modeling of longitudinal and time-to-event data to predict patient survival
WO2024159053A1 (en) 2023-01-25 2024-08-02 Guardant Health, Inc. Nucleic acid methylation profiling method
CN115798580B (zh) * 2023-02-10 2023-11-07 北京中仪康卫医疗器械有限公司 基于基因型填补和低深度测序的一体化基因组分析方法
CN120898247A (zh) 2023-04-07 2025-11-04 夸登特健康公司 基于无细胞核酸分子的甲基化状态检测肿瘤的存在
US20250101522A1 (en) 2023-04-12 2025-03-27 Guardant Health, Inc. Brca1 promoter methylation in sporadic breast cancer patients detected by liquid biopsy
WO2024229143A1 (en) 2023-05-01 2024-11-07 Guardant Health, Inc. Quality control method for enzymatic conversion procedures
WO2024229433A1 (en) 2023-05-03 2024-11-07 Guardant Health, Inc. Methods for analysis of dna methylation
WO2024233502A1 (en) 2023-05-05 2024-11-14 Guardant Health, Inc. Cell-free dna blood-based test for cancer screening
WO2024259251A1 (en) 2023-06-15 2024-12-19 Guardant Health, Inc. Method for hrd detection in targeted cfdna samples using de novo mutational signatures
WO2024264065A1 (en) 2023-06-23 2024-12-26 Guardant Health, Inc. Methods and compositions for quantifying immune cell nucleic acids
WO2025007034A1 (en) 2023-06-29 2025-01-02 Guardant Health, Inc. Methods for determining surveillance and therapy for diseases
WO2025029475A1 (en) 2023-07-28 2025-02-06 Guardant Health, Inc. Methods to enrich nucleotide variants by negative selection
WO2025038399A1 (en) 2023-08-11 2025-02-20 Guardant Health, Inc. Methylated enrichment methods for single-molecule genetic and epigenetic sequencing
US20250084469A1 (en) 2023-09-12 2025-03-13 Guardant Health, Inc. Methods for analyzing nucleic acids using sequence read family size distribution
WO2025064706A1 (en) 2023-09-19 2025-03-27 Guardant Health, Inc. Detecting the presence of a tumor based on methylation status of cell-free nucleic acid molecules
WO2025072467A1 (en) 2023-09-29 2025-04-03 Guardant Health, Inc. Genotyping cyp2d6
WO2025076452A1 (en) 2023-10-06 2025-04-10 Guardant Health, Inc. Detecting tumor-related information based on methylation status of cell-free nucleic acid molecules
US20250250638A1 (en) 2023-10-06 2025-08-07 Guardant Health, Inc. Genomic and methylation biomarkers for prediction of copy number loss / gene deletion
WO2025079958A1 (ko) * 2023-10-11 2025-04-17 고려대학교 산학협력단 높은 처리량의 돌연변이 특이적 아답터 리게이션 방법
WO2025085784A1 (en) 2023-10-18 2025-04-24 Guardant Health, Inc. Genomic and methylation biomarkers for determining patient risk of heart disease and novel genomic and epigenomic drug targets to decrease risk of heart disease and/or improve patient outcome after myocardial infarction or cardiac injury
WO2025090954A1 (en) 2023-10-26 2025-05-01 Guardant Health, Inc. Methods for detecting nucleic acid variants
WO2025090956A1 (en) 2023-10-26 2025-05-01 Guardant Health, Inc. Methods for detecting nucleic acid variants using capture probes
US20250285708A1 (en) 2023-10-27 2025-09-11 Guardant Health, Inc. Monitoring molecular response by allelic imbalance
US20250243550A1 (en) 2023-11-15 2025-07-31 Guardant Health, Inc. Minimum residual disease (mrd) detection in early stage cancer using urine
WO2025106263A1 (en) 2023-11-15 2025-05-22 Guardant Health, Inc. Joint modeling of longitudinal and time-to-event data to predict patient survival
WO2025137620A1 (en) 2023-12-21 2025-06-26 Guardant Health, Inc. Methods for high quality and high accuracy methylation sequencing
WO2025137389A2 (en) 2023-12-22 2025-06-26 Guardant Health, Inc. Methods for targeted single-molecule genetic and epigenetic sequencing
WO2025160433A1 (en) * 2024-01-24 2025-07-31 Guardant Health, Inc. Methods for analyzing sequencing reads
WO2025207817A1 (en) 2024-03-26 2025-10-02 Guardant Health, Inc. Method of determining the likelihood of a disease by combining biomarkers and imaging
WO2025207788A1 (en) 2024-03-27 2025-10-02 Guardant Health, Inc. Inferring cnvs from the distribution of molecules in hyper partition
WO2025207941A1 (en) 2024-03-28 2025-10-02 Guardant Health, Inc. Methods for separating cpg-dense dna by binding of cpg-binding proteins and methyl-sensitive deamination
WO2025208044A1 (en) 2024-03-28 2025-10-02 Guardant Health, Inc. Methods for cancer detection using molecular patterns
US20250308629A1 (en) 2024-04-01 2025-10-02 Guardant Health, Inc. Small variant calling with error-rate based model
WO2025235602A1 (en) 2024-05-07 2025-11-13 Guardant Health, Inc. Predictive, prognostic signatures for immuno-oncology using liquid biopsy
WO2025235889A1 (en) 2024-05-10 2025-11-13 Guardant Health, Inc. Methods involving multiplexed pooled pcr
US12467087B1 (en) 2024-06-25 2025-11-11 Guardant Health, Inc. Sequencing methods with partitioning

Family Cites Families (279)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US604804A (en) * 1898-05-31 Shuttle for looms
US4725536A (en) 1985-09-19 1988-02-16 Genetics Institute, Inc. Reagent polynucleotide complex with multiple target binding regions, and kit and methods
US6150517A (en) 1986-11-24 2000-11-21 Gen-Probe Methods for making oligonucleotide probes for the detection and/or quantitation of non-viral organisms
US4942124A (en) 1987-08-11 1990-07-17 President And Fellows Of Harvard College Multiplex sequencing
US5149625A (en) 1987-08-11 1992-09-22 President And Fellows Of Harvard College Multiplex analysis of DNA
US5656731A (en) 1987-10-15 1997-08-12 Chiron Corporation Nucleic acid-amplified immunoassay probes
US5124246A (en) 1987-10-15 1992-06-23 Chiron Corporation Nucleic acid multimers and amplified nucleic acid hybridization assays using same
US5800992A (en) 1989-06-07 1998-09-01 Fodor; Stephen P.A. Method of detecting nucleic acids
US5744101A (en) 1989-06-07 1998-04-28 Affymax Technologies N.V. Photolabile nucleoside protecting groups
US5143854A (en) 1989-06-07 1992-09-01 Affymax Technologies N.V. Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof
US5424186A (en) 1989-06-07 1995-06-13 Affymax Technologies N.V. Very large scale immobilized polymer synthesis
US5925525A (en) 1989-06-07 1999-07-20 Affymetrix, Inc. Method of identifying nucleotide differences
US6040138A (en) 1995-09-15 2000-03-21 Affymetrix, Inc. Expression monitoring by hybridization to high density oligonucleotide arrays
US6309822B1 (en) 1989-06-07 2001-10-30 Affymetrix, Inc. Method for comparing copy number of nucleic acid sequences
US5871928A (en) 1989-06-07 1999-02-16 Fodor; Stephen P. A. Methods for nucleic acid analysis
US6551784B2 (en) 1989-06-07 2003-04-22 Affymetrix Inc Method of comparing nucleic acid sequences
US5200314A (en) 1990-03-23 1993-04-06 Chiron Corporation Polynucleotide capture assay employing in vitro amplification
AU1248292A (en) 1990-12-06 1992-07-08 Affymax Technologies N.V. Sequencing by hybridization of a target nucleic acid to a matrix of defined oligonucleotides
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
US5981179A (en) 1991-11-14 1999-11-09 Digene Diagnostics, Inc. Continuous amplification reaction
US5424413A (en) 1992-01-22 1995-06-13 Gen-Probe Incorporated Branched nucleic acid probes
US5573905A (en) 1992-03-30 1996-11-12 The Scripps Research Institute Encoded combinatorial chemical libraries
US6020124A (en) 1992-04-27 2000-02-01 Trustees Of Dartmouth College Detection of soluble gene sequences in biological fluids
US5981176A (en) 1992-06-17 1999-11-09 City Of Hope Method of detecting and discriminating between nucleic acid sequences
WO1995000530A1 (en) 1993-06-25 1995-01-05 Affymax Technologies N.V. Hybridization and sequencing of nucleic acids
US5500356A (en) 1993-08-10 1996-03-19 Life Technologies, Inc. Method of nucleic acid sequence selection
US6309823B1 (en) 1993-10-26 2001-10-30 Affymetrix, Inc. Arrays of nucleic acid probes for analyzing biotransformation genes and methods of using the same
US5681697A (en) 1993-12-08 1997-10-28 Chiron Corporation Solution phase nucleic acid sandwich assays having reduced background noise and kits therefor
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
US20030017081A1 (en) 1994-02-10 2003-01-23 Affymetrix, Inc. Method and apparatus for imaging a sample on a device
US5714330A (en) 1994-04-04 1998-02-03 Lynx Therapeutics, Inc. DNA sequencing by stepwise ligation and cleavage
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
US5695934A (en) 1994-10-13 1997-12-09 Lynx Therapeutics, Inc. Massively parallel sequencing of sorted polynucleotides
US5604097A (en) 1994-10-13 1997-02-18 Spectragen, Inc. Methods for sorting polynucleotides using oligonucleotide tags
US6013445A (en) 1996-06-06 2000-01-11 Lynx Therapeutics, Inc. Massively parallel signature sequencing by ligation of encoded adaptors
US6600996B2 (en) 1994-10-21 2003-07-29 Affymetrix, Inc. Computer-aided techniques for analyzing biological sequences
DE69535240T2 (de) 1994-10-28 2007-06-06 Gen-Probe Inc., San Diego Zusammensetzungen und Verfahren für die gleichzeitige Detektion und Quantifizierung von einer Mehrheit spezifischer Nuklein Säure Sequenzen
US5648245A (en) 1995-05-09 1997-07-15 Carnegie Institution Of Washington Method for constructing an oligonucleotide concatamer library by rolling circle replication
US5968740A (en) 1995-07-24 1999-10-19 Affymetrix, Inc. Method of Identifying a Base in a Nucleic Acid
GB9516636D0 (en) 1995-08-14 1995-10-18 Univ London In-situ nucleic acid amplification and detection
US5763175A (en) 1995-11-17 1998-06-09 Lynx Therapeutics, Inc. Simultaneous sequencing of tagged polynucleotides
US5854033A (en) 1995-11-21 1998-12-29 Yale University Rolling circle replication reporter systems
WO1997034015A1 (en) 1996-03-15 1997-09-18 The Penn State Research Foundation Detection of extracellular tumor-associated nucleic acid in blood plasma or serum using nucleic acid amplification assays
DE69739909D1 (de) 1996-03-26 2010-07-29 Michael S Kopreski Methoden aus plasma oder serum extrahierte extrazelluraere rna zur diagnoseüberwachung oder evaluation von krebs verwenden
US6458530B1 (en) 1996-04-04 2002-10-01 Affymetrix Inc. Selecting tag nucleic acids
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US5935793A (en) 1996-09-27 1999-08-10 The Chinese University Of Hong Kong Parallel polynucleotide sequencing method using tagged primers
US6124092A (en) 1996-10-04 2000-09-26 The Perkin-Elmer Corporation Multiplex polynucleotide capture methods and compositions
US6117631A (en) 1996-10-29 2000-09-12 Polyprobe, Inc. Detection of antigens via oligonucleotide antibody conjugates
US6046005A (en) 1997-01-15 2000-04-04 Incyte Pharmaceuticals, Inc. Nucleic acid sequencing with solid phase capturable terminators comprising a cleavable linking group
EP0985142A4 (en) 1997-05-23 2006-09-13 Lynx Therapeutics Inc SYSTEM AND APPARATUS FOR THE SEQUENTIAL TREATMENT OF ANALYTES
AU1603199A (en) 1997-12-03 1999-06-16 Curagen Corporation Methods and devices for measuring differential gene expression
AU5584999A (en) 1998-08-28 2000-03-21 Invitrogen Corporation System for the rapid manipulation of nucleic acid sequences
WO2000014282A1 (en) 1998-09-04 2000-03-16 Lynx Therapeutics, Inc. Method of screening for genetic polymorphism
US6503718B2 (en) 1999-01-10 2003-01-07 Exact Sciences Corporation Methods for detecting mutations using primer extension for detecting disease
US6573053B1 (en) 1999-02-05 2003-06-03 Amersham Biosciences Uk Limited Analysis method
US6629040B1 (en) 1999-03-19 2003-09-30 University Of Washington Isotope distribution encoded tags for protein identification
WO2000058516A2 (en) 1999-03-26 2000-10-05 Whitehead Institute For Biomedical Research Universal arrays
ATE331811T1 (de) 1999-04-09 2006-07-15 Exact Sciences Corp Verfahren zur detektion von nukleinsäuren, welche auf krebs hinweisen
US6699661B1 (en) 1999-04-20 2004-03-02 Kankyo Engineering Co., Ltd. Method for determining a concentration of target nucleic acid molecules, nucleic acid probes for the method, and method for analyzing data obtained by the method
US6355431B1 (en) 1999-04-20 2002-03-12 Illumina, Inc. Detection of nucleic acid amplification reactions using bead arrays
US6242186B1 (en) 1999-06-01 2001-06-05 Oy Jurilab Ltd. Method for detecting a risk of cancer and coronary heart disease and kit therefor
US6326148B1 (en) 1999-07-12 2001-12-04 The Regents Of The University Of California Detection of copy number changes in colon cancer
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
US6849403B1 (en) 1999-09-08 2005-02-01 Exact Sciences Corporation Apparatus and method for drug screening
US6586177B1 (en) 1999-09-08 2003-07-01 Exact Sciences Corporation Methods for disease detection
CA2394921A1 (en) 1999-12-07 2001-06-14 Anthony P. Shuber Supracolonic aerodigestive neoplasm detection
US6489114B2 (en) 1999-12-17 2002-12-03 Bio Merieux Process for labeling a ribonucleic acid, and labeled RNA fragments which are obtained thereby
WO2001057269A2 (en) 2000-02-07 2001-08-09 Illumina, Inc. Nucleic acid detection methods using universal priming
GB2364054B (en) 2000-03-24 2002-05-29 Smithkline Beecham Corp Method of amplifying quinolone-resistance-determining-regions and identifying polymorphic variants thereof
US20030207300A1 (en) 2000-04-28 2003-11-06 Matray Tracy J. Multiplex analytical platform using molecular tags
EP1158055A1 (fr) 2000-05-26 2001-11-28 Xu Qi University of Teaxs Laboratoire de Leucémie Chen Méthode pour le diagnostic de cancers
CA2426824A1 (en) 2000-10-24 2002-07-25 The Board Of Trustees Of The Leland Stanford Junior University Direct multiplex characterization of genomic dna
US20020142345A1 (en) 2000-12-22 2002-10-03 Nelsen Anita J. Methods for encoding and decoding complex mixtures in arrayed assays
US20030049616A1 (en) 2001-01-08 2003-03-13 Sydney Brenner Enzymatic synthesis of oligonucleotide tags
US6428964B1 (en) 2001-03-15 2002-08-06 Exact Sciences Corporation Method for alteration detection
CA2344599C (en) 2001-05-07 2011-07-12 Bioneer Corporation Selective polymerase chain reaction of dna of which base sequence is completely unknown
US7406385B2 (en) 2001-10-25 2008-07-29 Applera Corporation System and method for consensus-calling with per-base quality values for sample assemblies
DE60207979T2 (de) 2002-03-05 2006-09-28 Epigenomics Ag Verfahren und Vorrichtung zur Bestimmung der Gewebespezifität von freier DNA in Körperflüssigkeiten
US20030186251A1 (en) 2002-04-01 2003-10-02 Brookhaven Science Associates, Llc Genome sequence tags
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
US7424368B2 (en) 2002-11-11 2008-09-09 Affymetix, Inc. Methods for identifying DNA copy number changes
US7822555B2 (en) 2002-11-11 2010-10-26 Affymetrix, Inc. Methods for identifying DNA copy number changes
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
WO2004081183A2 (en) 2003-03-07 2004-09-23 Rubicon Genomics, Inc. In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna
US20040259118A1 (en) 2003-06-23 2004-12-23 Macevicz Stephen C. Methods and compositions for nucleic acid sequence analysis
CA2531105C (en) 2003-07-05 2015-03-17 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
DE10348407A1 (de) 2003-10-17 2005-05-19 Widschwendter, Martin, Prof. Prognostische und diagnostische Marker für Zell-proliferative Erkrankungen von Brustgeweben
US20070111233A1 (en) 2003-10-30 2007-05-17 Bianchi Diana W Prenatal diagnosis using cell-free fetal DNA in amniotic fluid
JP2007524410A (ja) 2004-01-23 2007-08-30 リングヴィテ エーエス ポリヌクレオチドライゲーション反応の改良
JP2007521833A (ja) 2004-02-12 2007-08-09 コンパス ジェネティクス エルエルシー 配列特異的分類による遺伝的分析
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20050250147A1 (en) 2004-05-10 2005-11-10 Macevicz Stephen C Digital profiling of polynucleotide populations
US7276720B2 (en) 2004-07-19 2007-10-02 Helicos Biosciences Corporation Apparatus and methods for analyzing samples
US20060035258A1 (en) 2004-08-06 2006-02-16 Affymetrix, Inc. Methods for identifying DNA copy number changes
US7937225B2 (en) 2004-09-03 2011-05-03 New York University Systems, methods and software arrangements for detection of genome copy number variation
EP1647600A3 (en) 2004-09-17 2006-06-28 Affymetrix, Inc. (A US Entity) Methods for identifying biological samples by addition of nucleic acid bar-code tags
WO2006047787A2 (en) 2004-10-27 2006-05-04 Exact Sciences Corporation Method for monitoring disease progression or recurrence
US7424371B2 (en) 2004-12-21 2008-09-09 Helicos Biosciences Corporation Nucleic acid analysis
US7393665B2 (en) 2005-02-10 2008-07-01 Population Genetics Technologies Ltd Methods and compositions for tagging and identifying polynucleotides
ITRM20050068A1 (it) 2005-02-17 2006-08-18 Istituto Naz Per Le Malattie I Metodo per la rivelazione di acidi nucleici di agenti patogeni batterici o di parassiti nelle urine.
EP1856293A2 (en) 2005-03-16 2007-11-21 Compass Genetics, Llc Methods and compositions for assay readouts on multiple analytical platforms
EP1861512A4 (en) 2005-03-18 2009-12-09 Fluidigm Corp THERMAL REACTION DEVICE AND USE METHOD THEREFOR
ATE406463T1 (de) 2005-04-06 2008-09-15 Maurice Stroun Methode zur krebsdiagnose mittels nachweis von dna und rna im kreislauf
US20070020640A1 (en) 2005-07-21 2007-01-25 Mccloskey Megan L Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis
US7666593B2 (en) 2005-08-26 2010-02-23 Helicos Biosciences Corporation Single molecule sequencing of captured nucleic acids
AU2006295556B2 (en) 2005-09-29 2012-07-05 Keygene N.V. High throughput screening of mutagenized populations
WO2007087312A2 (en) 2006-01-23 2007-08-02 Population Genetics Technologies Ltd. Molecular counting
US20070172839A1 (en) 2006-01-24 2007-07-26 Smith Douglas R Asymmetrical adapters and methods of use thereof
US8383338B2 (en) 2006-04-24 2013-02-26 Roche Nimblegen, Inc. Methods and systems for uniform enrichment of genomic regions
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
AU2007253740A1 (en) 2006-05-18 2007-11-29 Molecular Profiling Institute, Inc. System and method for determining individualized medical intervention for a disease state
WO2008111990A1 (en) 2006-06-14 2008-09-18 Cellpoint Diagnostics, Inc. Rare cell analysis using sample splitting and dna tags
FR2904833A1 (fr) 2006-08-11 2008-02-15 Bioquanta Sarl Procede de dosage d'acide nuclieque par fluorescence
DK2518162T3 (en) 2006-11-15 2018-06-18 Biospherex Llc Multi-tag sequencing and ecogenomic analysis
WO2008070144A2 (en) 2006-12-06 2008-06-12 Duke University Imprinted genes and disease
US9090693B2 (en) 2007-01-25 2015-07-28 Dana-Farber Cancer Institute Use of anti-EGFR antibodies in treatment of EGFR mutant mediated disease
PT2121989E (pt) 2007-03-13 2014-04-30 Amgen Inc Novo derivado de triazina e composição farmacéutica que contém o mesmo
WO2008148072A2 (en) 2007-05-24 2008-12-04 The Brigham And Women's Hospital, Inc. Disease-associated genetic variations and methods for obtaining and using same
JP2010528608A (ja) 2007-06-01 2010-08-26 454 ライフ サイエンシーズ コーポレイション 複合的な混合物から個々の試料を特定するためのシステムおよび方法
WO2008154317A1 (en) * 2007-06-06 2008-12-18 Pacific Biosciences Of California, Inc. Methods and processes for calling bases in sequence by incorporation methods
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
MX2010000846A (es) 2007-07-23 2010-04-21 Univ Hong Kong Chinese Diagnostico de aneuploide cromosomico fetal mediante el uso de secuenciacion genomica.
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
JP5707132B2 (ja) 2007-09-07 2015-04-22 フルイダイム コーポレイション コピー数変動の決定、方法およびシステム
US20100173294A1 (en) 2007-09-11 2010-07-08 Roche Molecular Systems, Inc. Diagnostic test for susceptibility to b-raf kinase inhibitors
ES2694573T3 (es) 2007-11-21 2018-12-21 Cosmosid Inc. Sistema de identificación de genomas
WO2009102632A2 (en) 2008-02-12 2009-08-20 Biocept, Inc. Method for isolating cell free apoptotic or fetal nucleic acids
US8216789B2 (en) 2008-02-27 2012-07-10 University Of Washington Diagnostic panel of cancer antibodies and methods for use
US20110003701A1 (en) * 2008-02-27 2011-01-06 454 Life Sciences Corporation System and method for improved processing of nucleic acids for production of sequencable libraries
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
EP4230747A3 (en) 2008-03-28 2023-11-15 Pacific Biosciences Of California, Inc. Compositions and methods for nucleic acid sequencing
WO2009143379A2 (en) 2008-05-21 2009-11-26 Fred Hutchinson Cancer Research Center Use of extracellular rna to measure disease
DE102008025656B4 (de) 2008-05-28 2016-07-28 Genxpro Gmbh Verfahren zur quantitativen Analyse von Nukleinsäuren, Marker dafür und deren Verwendung
US20090298709A1 (en) 2008-05-28 2009-12-03 Affymetrix, Inc. Assays for determining telomere length and repeated sequence copy number
CN102165073A (zh) 2008-07-10 2011-08-24 骆树恩 用于核酸作图和鉴定核酸中的精细结构变化的方法
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
US20100062494A1 (en) 2008-08-08 2010-03-11 President And Fellows Of Harvard College Enzymatic oligonucleotide pre-adenylation
WO2010021936A1 (en) 2008-08-16 2010-02-25 The Board Of Trustees Of The Leland Stanford Junior University Digital pcr calibration for high throughput sequencing
US8583380B2 (en) 2008-09-05 2013-11-12 Aueon, Inc. Methods for stratifying and annotating cancer drug treatment options
US8383345B2 (en) 2008-09-12 2013-02-26 University Of Washington Sequence tag directed subassembly of short sequencing reads into long sequencing reads
LT2334812T (lt) 2008-09-20 2017-04-25 The Board Of Trustees Of The Leland Stanford Junior University Neinvazinis fetalinės aneuploidijos diagnozavimas sekvenavimu
EP2607496B1 (en) 2008-12-23 2014-07-16 Illumina, Inc. Methods useful in nucleic acid sequencing protocols
JP2012514977A (ja) * 2009-01-13 2012-07-05 キージーン・エン・フェー 新規ゲノム配列決定戦略
US20100323348A1 (en) 2009-01-31 2010-12-23 The Regents Of The University Of Colorado, A Body Corporate Methods and Compositions for Using Error-Detecting and/or Error-Correcting Barcodes in Nucleic Acid Amplification Process
US20120165202A1 (en) 2009-04-30 2012-06-28 Good Start Genetics, Inc. Methods and compositions for evaluating genetic markers
US9085798B2 (en) 2009-04-30 2015-07-21 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
US20130143747A1 (en) 2011-12-05 2013-06-06 Myriad Genetics, Incorporated Methods of detecting cancer
US9524369B2 (en) 2009-06-15 2016-12-20 Complete Genomics, Inc. Processing and analysis of complex nucleic acid sequence data
EP2446052B1 (en) 2009-06-25 2018-08-08 Fred Hutchinson Cancer Research Center Method of measuring adaptive immunity
WO2011011426A2 (en) 2009-07-20 2011-01-27 Bar Harbor Biotechnology, Inc. Methods for assessing disease risk
EP2494065B1 (en) 2009-10-26 2015-12-23 Lifecodexx AG Means and methods for non-invasive diagnosis of chromosomal aneuploidy
JP2013510580A (ja) 2009-11-12 2013-03-28 エソテリックス ジェネティック ラボラトリーズ, エルエルシー 遺伝子座のコピー数の分析
US20110237444A1 (en) 2009-11-20 2011-09-29 Life Technologies Corporation Methods of mapping genomic methylation patterns
US9023769B2 (en) 2009-11-30 2015-05-05 Complete Genomics, Inc. cDNA library for nucleic acid sequencing
US9752187B2 (en) 2009-12-11 2017-09-05 Nucleix Categorization of DNA samples
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
US8965076B2 (en) 2010-01-13 2015-02-24 Illumina, Inc. Data processing system and methods
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20110177512A1 (en) 2010-01-19 2011-07-21 Predictive Biosciences, Inc. Method for assuring amplification of an abnormal nucleic acid in a sample
US20120100548A1 (en) * 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
CA2785718C (en) 2010-01-19 2017-04-04 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
EP2536854B1 (en) 2010-02-18 2017-07-19 The Johns Hopkins University Personalized tumor biomarkers
WO2011115937A1 (en) 2010-03-14 2011-09-22 The Translational Genomics Research Institute Methods of determining susceptibility of tumors to tyrosine kinase inhibitors
CN101967517B (zh) 2010-03-19 2012-11-07 黄乐群 一种无需借助pcr的基因检测方法
EP2558854B1 (en) 2010-04-16 2018-10-10 Chronix Biomedical Breast cancer associated circulating nucleic acid biomarkers
US9255291B2 (en) 2010-05-06 2016-02-09 Bioo Scientific Corporation Oligonucleotide ligation methods for improving data quality and throughput using massively parallel sequencing
WO2011142836A2 (en) * 2010-05-14 2011-11-17 Fluidigm Corporation Assays for the detection of genotype, mutations, and/or aneuploidy
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
ES2647612T3 (es) 2010-06-04 2017-12-22 Chronix Biomedical Biomarcadores de ácidos nucleicos en circulación asociados al cáncer de próstata
CN102933721B (zh) 2010-06-09 2015-12-02 凯津公司 用于高通量筛选的组合序列条形码
EP2400035A1 (en) 2010-06-28 2011-12-28 Technische Universität München Methods and compositions for diagnosing gastrointestinal stromal tumors
US20120046877A1 (en) * 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
EP4303584A3 (en) 2010-07-23 2024-04-03 President and Fellows of Harvard College Methods for detecting signatures of disease or conditions in bodily fluids
EP2599545B1 (en) 2010-07-29 2019-09-04 Toto Ltd. Photocatalyst coated body and photocatalyst coating liquid
CN103392182B (zh) 2010-08-02 2017-07-04 众有生物有限公司 用于发现遗传疾病中致病突变的系统和方法
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US11031095B2 (en) * 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
US20120231479A1 (en) 2010-09-09 2012-09-13 Robert Puskas Combination methods of diagnosing cancer in a patient
CN103154273A (zh) 2010-09-21 2013-06-12 群体遗传学科技有限公司 通过分子计数提高等位基因调用的置信度
EP3572528A1 (en) * 2010-09-24 2019-11-27 The Board of Trustees of the Leland Stanford Junior University Direct capture, amplification and sequencing of target dna using immobilized primers
WO2012042374A2 (en) 2010-10-01 2012-04-05 Anssi Jussi Nikolai Taipale Method of determining number or concentration of molecules
EP2625320B1 (en) 2010-10-08 2019-03-27 President and Fellows of Harvard College High-throughput single cell barcoding
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
DK2630263T4 (da) 2010-10-22 2022-02-14 Cold Spring Harbor Laboratory Varital tælling af nucleinsyrer for at opnå information om antal genomiske kopier
WO2012066451A1 (en) 2010-11-15 2012-05-24 Pfizer Inc. Prognostic and predictive gene signature for colon cancer
SG10201509766YA (en) 2010-11-30 2015-12-30 Univ Hong Kong Chinese Detection of genetic or molecular aberrations associated with cancer
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
US9163281B2 (en) 2010-12-23 2015-10-20 Good Start Genetics, Inc. Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction
CA2822439A1 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
JP6054303B2 (ja) 2010-12-30 2016-12-27 ファウンデーション メディシン インコーポレイテッドFoundation Medicine, Inc. 腫瘍試料の多重遺伝子分析の最適化
WO2012097053A1 (en) 2011-01-11 2012-07-19 Via Genomes, Inc. Methods, systems, databases, kits and arrays for screening for and predicting the risk of and identifying the presence of tumors and cancers
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
US20140024539A1 (en) 2011-02-02 2014-01-23 Translational Genomics Research Institute Biomarkers and methods of use thereof
EP2673729B1 (en) 2011-02-09 2018-10-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20120238464A1 (en) 2011-03-18 2012-09-20 Baylor Research Institute Biomarkers for Predicting the Recurrence of Colorectal Cancer Metastasis
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
US20150065358A1 (en) 2011-03-30 2015-03-05 Verinata Health, Inc. Method for verifying bioassay samples
CN103748236B (zh) 2011-04-15 2018-12-25 约翰·霍普金斯大学 安全测序系统
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
CA2834291A1 (en) 2011-04-25 2012-11-01 Biorad Laboratories, Inc. Methods and compositions for nucleic acid analysis
JP6669430B2 (ja) 2011-05-06 2020-03-18 ニユー・イングランド・バイオレイブス・インコーポレイテツド ライゲーションの促進
US9074204B2 (en) 2011-05-20 2015-07-07 Fluidigm Corporation Nucleic acid encoding reactions
US9752176B2 (en) 2011-06-15 2017-09-05 Ginkgo Bioworks, Inc. Methods for preparative in vitro cloning
US9340826B2 (en) 2011-08-01 2016-05-17 Celemics, Inc. Method of preparing nucleic acid molecules
US10704164B2 (en) 2011-08-31 2020-07-07 Life Technologies Corporation Methods, systems, computer readable media, and kits for sample identification
WO2013033721A1 (en) 2011-09-02 2013-03-07 Atreca, Inc. Dna barcodes for multiplexed sequencing
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US20130079241A1 (en) 2011-09-15 2013-03-28 Jianhua Luo Methods for Diagnosing Prostate Cancer and Predicting Prostate Cancer Relapse
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130102485A1 (en) 2011-10-19 2013-04-25 Inhan Lee Method of Determining a Diseased State in a Subject
US20140303008A1 (en) 2011-10-21 2014-10-09 Chronix Biomedical Colorectal cancer associated circulating nucleic acid biomarkers
NO3051026T3 (pl) 2011-10-21 2018-07-28
US20130122499A1 (en) 2011-11-14 2013-05-16 Viomics, Inc. System and method of detecting local copy number variation in dna samples
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
WO2013086424A1 (en) 2011-12-08 2013-06-13 Five3 Genomics, Llc Mdm2-containing double minute chromosomes and methods therefore
EP3434789A1 (en) 2012-01-13 2019-01-30 Data2Bio Genotyping by next-generation sequencing
PT2814959T (pt) 2012-02-17 2018-04-12 Hutchinson Fred Cancer Res Composições e métodos para a identificação exata de mutações
AU2013226081B2 (en) 2012-02-27 2018-06-14 Becton, Dickinson And Company Compositions and kits for molecular counting
EP2820174B1 (en) 2012-02-27 2019-12-25 The University of North Carolina at Chapel Hill Methods and uses for molecular tags
EP3287531B1 (en) 2012-02-28 2019-06-19 Agilent Technologies, Inc. Method for attaching a counter sequence to a nucleic acid sample
US9890429B2 (en) 2012-02-29 2018-02-13 Dana-Farber Cancer Institute, Inc. Compositions, kits, and methods for the identification, assessment, prevention, and therapy of cancer
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
CA2867293C (en) 2012-03-13 2020-09-01 Abhijit Ajit PATEL Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
ES2828661T3 (es) 2012-03-20 2021-05-27 Univ Washington Through Its Center For Commercialization Métodos para reducir la tasa de error de la secuenciación de ADN masiva en paralelo mediante el uso de la secuenciación de secuencia consenso bicatenaria
WO2013142213A1 (en) 2012-03-20 2013-09-26 Wake Forest University Health Sciences Methods, systems, and computer readable media for tracking and verifying receipt of contents of a delivery within an organization
WO2013148496A1 (en) 2012-03-26 2013-10-03 The Johns Hopkins University Rapid aneuploidy detection
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
CA2870969C (en) 2012-04-19 2023-10-03 Aoy Tomita Mitchell Highly sensitive surveillance using detection of cell free dna
PT2850211T (pt) 2012-05-14 2021-11-29 Irepertoire Inc Método para aumentar a precisão na deteção quantitativa de polinucleótidos
WO2013181170A1 (en) 2012-05-31 2013-12-05 Board Of Regents, The University Of Texas System Method for accurate sequencing of dna
AU2013274366A1 (en) 2012-06-11 2015-01-22 Adaptive Biotechnologies Corp. Method of sequence determination using sequence tags
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014004726A1 (en) 2012-06-26 2014-01-03 Caifu Chen Methods, compositions and kits for the diagnosis, prognosis and monitoring of cancer
DE202013012824U1 (de) 2012-09-04 2020-03-10 Guardant Health, Inc. Systeme zum Erfassen von seltenen Mutationen und einer Kopienzahlvariation
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US9932576B2 (en) 2012-12-10 2018-04-03 Resolution Bioscience, Inc. Methods for targeted genomic analysis
EP2941753A4 (en) 2013-01-05 2016-08-17 Foundation Medicine Inc SYSTEM AND METHOD FOR MONITORING AND ANALYZING RESULTS
EP3939614A1 (en) 2013-01-18 2022-01-19 Foundation Medicine, Inc. Methods of treating cholangiocarcinoma
WO2014152990A1 (en) 2013-03-14 2014-09-25 University Of Rochester System and method for detecting population variation from nucleic acid sequencing data
HK1222684A1 (zh) * 2013-03-15 2017-07-07 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
WO2014145078A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
EP4253558B1 (en) 2013-03-15 2025-07-02 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
GB2525568B (en) * 2013-03-15 2020-10-14 Abvitro Llc Single cell barcoding for antibody discovery
EP2971139A4 (en) 2013-03-15 2016-12-07 Abbott Molecular Inc SYSTEMS AND METHOD FOR PROVIDING THE CHANGE OF A GENOMIC COPY NUMBER
SG11201507739TA (en) 2013-03-19 2015-10-29 Toppan Printing Co Ltd Method for predicting sensitivity to egfr inhibitor
EP4617376A2 (en) 2013-05-23 2025-09-17 The Board of Trustees of the Leland Stanford Junior University Transposition into native chromatin for personal epigenomics
CN105849264B (zh) 2013-11-13 2019-09-27 纽亘技术公司 用于鉴别重复测序读数的组合物和方法
JP2015096049A (ja) 2013-11-15 2015-05-21 凸版印刷株式会社 Vegf阻害剤長期奏功性予測方法
EP3771745A1 (en) 2013-12-28 2021-02-03 Guardant Health, Inc. Methods and systems for detecting genetic variants
EP3132055A2 (en) 2014-04-14 2017-02-22 Yissum Research and Development Company of the Hebrew University of Jerusalem Ltd. A method and kit for determining the tissue or cell origin of dna
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
EP3805404A1 (en) 2014-05-13 2021-04-14 Board of Regents, The University of Texas System Gene mutations and copy number alterations of egfr, kras and met
JP2017522908A (ja) 2014-07-25 2017-08-17 ユニヴァーシティ オブ ワシントン セルフリーdnaを生じる組織及び/又は細胞タイプを決定する方法、並びにそれを用いて疾患又は異常を識別する方法
EP3178941B1 (en) 2014-07-25 2021-10-13 BGI Genomics Co., Limited Method for determining the fraction of cell-free fetal nucleic acids in a peripheral blood sample from a pregnant woman and use thereof
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
US10733903B2 (en) 2014-09-10 2020-08-04 Pathway Genomics Corporation Health and wellness management methods and systems useful for the practice thereof
US11085084B2 (en) 2014-09-12 2021-08-10 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acids
ES2908347T3 (es) 2015-02-10 2022-04-28 Univ Hong Kong Chinese Detección de mutaciones para cribado de cáncer y análisis fetal
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
JP6975507B2 (ja) 2015-12-08 2021-12-01 ツインストランド・バイオサイエンシズ・インコーポレイテッドTwinstrand Biosciences, Inc. 二本鎖配列決定のための改善されたアダプター、方法、及び組成物
ES3019936T3 (en) 2016-03-22 2025-05-21 Myriad Womens Health Inc Combinatorial dna screening
US20190085406A1 (en) 2016-04-14 2019-03-21 Guardant Health, Inc. Methods for early detection of cancer

Also Published As

Publication number Publication date
ES2711635T3 (es) 2019-05-06
US20170218459A1 (en) 2017-08-03
EP3470533B2 (en) 2023-01-18
US10961592B2 (en) 2021-03-30
ES2906714T3 (es) 2022-04-20
JP7119014B2 (ja) 2022-08-16
EP3842551B1 (en) 2023-11-01
CN110872617A (zh) 2020-03-10
EP4424826A3 (en) 2024-11-27
IL237480A0 (en) 2015-04-30
ES2968333T3 (es) 2024-05-09
US10822663B2 (en) 2020-11-03
US20250223656A1 (en) 2025-07-10
US9834822B2 (en) 2017-12-05
JP6275145B2 (ja) 2018-02-07
CN104781421B (zh) 2020-06-05
MX2015002769A (es) 2015-08-14
IL269097B2 (en) 2024-01-01
US20190185940A1 (en) 2019-06-20
US11879158B2 (en) 2024-01-23
DK2893040T5 (en) 2019-03-18
CN104781421A (zh) 2015-07-15
JP2020103298A (ja) 2020-07-09
US9840743B2 (en) 2017-12-12
US20240200150A1 (en) 2024-06-20
ES2769241T3 (es) 2020-06-25
ES2984550T3 (es) 2024-10-29
HK1201080A1 (zh) 2015-08-21
US12110560B2 (en) 2024-10-08
DE202013012824U1 (de) 2020-03-10
GB2533006A (en) 2016-06-08
IL269097B1 (en) 2023-09-01
EP4036247B1 (en) 2024-04-10
EP2893040B1 (en) 2019-01-02
CA2883901C (en) 2023-04-11
KR102028375B1 (ko) 2019-10-04
US20180171415A1 (en) 2018-06-21
US20220042104A1 (en) 2022-02-10
CA3190199A1 (en) 2014-03-13
US10876172B2 (en) 2020-12-29
US10793916B2 (en) 2020-10-06
KR20190112843A (ko) 2019-10-07
US20210355549A1 (en) 2021-11-18
EP3470533A1 (en) 2019-04-17
EP3842551A1 (en) 2021-06-30
EP4036247A1 (en) 2022-08-03
KR102210852B1 (ko) 2021-02-01
US10501808B2 (en) 2019-12-10
GB2533006B (en) 2017-06-07
IL269097A (en) 2019-11-28
EP4424826A2 (en) 2024-09-04
US10837063B2 (en) 2020-11-17
US20200248270A1 (en) 2020-08-06
US20250051858A1 (en) 2025-02-13
US20200299785A1 (en) 2020-09-24
US20200087736A1 (en) 2020-03-19
US20210130912A1 (en) 2021-05-06
KR20240007774A (ko) 2024-01-16
HK1212396A1 (en) 2016-06-10
US20170218460A1 (en) 2017-08-03
JP2020000237A (ja) 2020-01-09
CA2883901A1 (en) 2014-03-13
US20230323477A1 (en) 2023-10-12
KR102393608B1 (ko) 2022-05-03
JP6664025B2 (ja) 2020-03-13
US10876171B2 (en) 2020-12-29
US10501810B2 (en) 2019-12-10
US20190177802A1 (en) 2019-06-13
EP3591073B1 (en) 2021-12-01
US20190185941A1 (en) 2019-06-20
US20180223374A1 (en) 2018-08-09
US12049673B2 (en) 2024-07-30
US10683556B2 (en) 2020-06-16
IL237480B (en) 2019-10-31
US10738364B2 (en) 2020-08-11
US20180327862A1 (en) 2018-11-15
DK2893040T3 (en) 2019-03-11
MX367963B (es) 2019-09-11
GB201509071D0 (en) 2015-07-08
US20210032707A1 (en) 2021-02-04
KR20220061271A (ko) 2022-05-12
JP2022169566A (ja) 2022-11-09
US10494678B2 (en) 2019-12-03
US12319972B2 (en) 2025-06-03
PL2893040T3 (pl) 2019-05-31
EP3842551C0 (en) 2023-11-01
KR20210013317A (ko) 2021-02-03
IL305303A (en) 2023-10-01
HK1225416B (zh) 2017-09-08
US11319597B2 (en) 2022-05-03
SG10202000486VA (en) 2020-03-30
US20210139998A1 (en) 2021-05-13
US20190177803A1 (en) 2019-06-13
ES2769241T5 (es) 2023-05-30
US11319598B2 (en) 2022-05-03
US10457995B2 (en) 2019-10-29
US20220205051A1 (en) 2022-06-30
EP3591073A1 (en) 2020-01-08
EP2893040A1 (en) 2015-07-15
EP2893040A4 (en) 2016-04-27
SG11201501662TA (en) 2015-05-28
JP2015535681A (ja) 2015-12-17
BR112015004847A2 (pt) 2020-04-22
PT2893040T (pt) 2019-04-01
US10041127B2 (en) 2018-08-07
US20200087735A1 (en) 2020-03-19
US20230151435A1 (en) 2023-05-18
US20150368708A1 (en) 2015-12-24
US12054783B2 (en) 2024-08-06
KR20150067161A (ko) 2015-06-17
WO2014039556A1 (en) 2014-03-13
JP2025016591A (ja) 2025-02-04
JP2018027096A (ja) 2018-02-22
US11001899B1 (en) 2021-05-11
US11773453B2 (en) 2023-10-03
EP3470533B1 (en) 2019-11-06
US20200291487A1 (en) 2020-09-17
US10995376B1 (en) 2021-05-04
US20240240258A1 (en) 2024-07-18
US20150299812A1 (en) 2015-10-22
US20210340632A1 (en) 2021-11-04
US10947600B2 (en) 2021-03-16
US9598731B2 (en) 2017-03-21
US12252749B2 (en) 2025-03-18

Similar Documents

Publication Publication Date Title
IL269097B1 (en) Systems and methods for detecting rare mutations and changes in number of copies
GB2528205B (en) Systems and methods to detect rare mutations and copy number variation
GB2523013B (en) Method and system to detect and select best photographs
GB2493514B (en) Copy detection
GB201322442D0 (en) Object detection methods display methods and apparatuses
GB2500915B (en) Arrangement and method
IL235826A0 (en) Diazaspirocycloalkane and azaspirocycloalkane
ZA201503461B (en) Apparatus and methods employing liquid-impregnated surfaces
ZA201306274B (en) Methods and system to prevent exhaust overheating
EP2836923A4 (en) METHODS AND APPARATUS FOR COPYING AND INSERTING INFORMATION
IL239369A0 (en) Pyrocyclic morphines and their use
HUE036039T2 (hu) Neutrondetektor egység, valamint neutrondetektor elrendezés
AP2014008113A0 (en) Pipeline and methods
GB201218084D0 (en) Novel compounds and methods for use in medicine
GB2510479B (en) Touch system and method
GB201213778D0 (en) Process and dressng
GB2510725B (en) Systems and methods to detect rare mutations and copy number variation
GB2506548B (en) Improvements to security arrangement methods and computer software
GB201211961D0 (en) Methods and groups
GB201208845D0 (en) Methods and groups
GB201209873D0 (en) Equipment-transport apparatus and methods
GB201218122D0 (en) Detection methods
GB201218654D0 (en) Methods and product
GB201219274D0 (en) Pyrolysis methods and apparatus
GB201222541D0 (en) Kiddibidet and pottibidet