PL3658689T3 - Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską - Google Patents
Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowskąInfo
- Publication number
- PL3658689T3 PL3658689T3 PL17748700T PL17748700T PL3658689T3 PL 3658689 T3 PL3658689 T3 PL 3658689T3 PL 17748700 T PL17748700 T PL 17748700T PL 17748700 T PL17748700 T PL 17748700T PL 3658689 T3 PL3658689 T3 PL 3658689T3
- Authority
- PL
- Poland
- Prior art keywords
- bayesian network
- maternal blood
- blood based
- invasive prenatal
- chromosome aneuploidy
- Prior art date
Links
- 208000036878 aneuploidy Diseases 0.000 title 1
- 231100001075 aneuploidy Toxicity 0.000 title 1
- 239000008280 blood Substances 0.000 title 1
- 210000004369 blood Anatomy 0.000 title 1
- 210000000349 chromosome Anatomy 0.000 title 1
- 238000001514 detection method Methods 0.000 title 1
- 230000001605 fetal effect Effects 0.000 title 1
- 230000008774 maternal effect Effects 0.000 title 1
- 238000000034 method Methods 0.000 title 1
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING 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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING 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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Microbiology (AREA)
- Epidemiology (AREA)
- Databases & Information Systems (AREA)
- Evolutionary Computation (AREA)
- Data Mining & Analysis (AREA)
- Public Health (AREA)
- Software Systems (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Bioethics (AREA)
- Artificial Intelligence (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| EP17748700.6A EP3658689B1 (en) | 2017-07-26 | 2017-07-26 | A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood based on bayesian network |
| PCT/EP2017/068881 WO2019020180A1 (en) | 2017-07-26 | 2017-07-26 | METHOD FOR NON-EFFECTIVE PRENATAL DETECTION OF FETAL CHROMOSOMAL ANEUPLOIDIE FROM MATERNAL BLOOD ON THE BASIS OF A BAYESIAN NETWORK |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| PL3658689T3 true PL3658689T3 (pl) | 2021-10-18 |
Family
ID=59523092
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PL17748700T PL3658689T3 (pl) | 2017-07-26 | 2017-07-26 | Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską |
Country Status (9)
| Country | Link |
|---|---|
| EP (1) | EP3658689B1 (pl) |
| CY (1) | CY1124409T1 (pl) |
| EA (1) | EA202090325A1 (pl) |
| HR (1) | HRP20210826T1 (pl) |
| HU (1) | HUE055063T2 (pl) |
| LT (1) | LT3658689T (pl) |
| PL (1) | PL3658689T3 (pl) |
| SI (1) | SI3658689T1 (pl) |
| WO (1) | WO2019020180A1 (pl) |
Families Citing this family (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2021137770A1 (en) * | 2019-12-30 | 2021-07-08 | Geneton S.R.O. | Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants |
| WO2021134513A1 (zh) * | 2019-12-31 | 2021-07-08 | 深圳华大医学检验实验室 | 确定染色体非整倍性、构建分类模型的方法和装置 |
| EP4192981A4 (en) * | 2020-08-09 | 2024-08-14 | Myriad Women's Health, Inc. | BAYES SEX CALLER |
| CN113012759B (zh) * | 2020-12-09 | 2022-08-12 | 人和未来生物科技(长沙)有限公司 | 一种基于X染色体的男胎cffDNA含量计算方法 |
| EP4581624A1 (en) * | 2022-08-30 | 2025-07-09 | The General Hospital Corporation | High-resolution and non-invasive fetal sequencing |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN106834481A (zh) | 2007-07-23 | 2017-06-13 | 香港中文大学 | 用于分析遗传变异的方法 |
| ES2620294T3 (es) | 2008-09-20 | 2017-06-28 | The Board Of Trustees Of The Leland Stanford Junior University | Diagnóstico no invasivo de la aneuploidia fetal por secuenciación |
| EP2824191A3 (en) | 2009-10-26 | 2015-02-18 | Lifecodexx AG | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
| AU2010343276B2 (en) | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| JP6153874B2 (ja) * | 2011-02-09 | 2017-06-28 | ナテラ, インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
| WO2015026967A1 (en) * | 2013-08-20 | 2015-02-26 | Natera, Inc. | Methods of using low fetal fraction detection |
| EP3760739B1 (en) * | 2014-07-30 | 2025-09-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP6971845B2 (ja) * | 2014-10-10 | 2021-11-24 | セクエノム, インコーポレイテッド | 遺伝子の変動の非侵襲的評価のための方法および処理 |
| WO2016094853A1 (en) * | 2014-12-12 | 2016-06-16 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
| US20160371428A1 (en) * | 2015-06-19 | 2016-12-22 | Natera, Inc. | Systems and methods for determining aneuploidy risk using sample fetal fraction |
-
2017
- 2017-07-26 WO PCT/EP2017/068881 patent/WO2019020180A1/en not_active Ceased
- 2017-07-26 PL PL17748700T patent/PL3658689T3/pl unknown
- 2017-07-26 HU HUE17748700A patent/HUE055063T2/hu unknown
- 2017-07-26 HR HRP20210826TT patent/HRP20210826T1/hr unknown
- 2017-07-26 LT LTEP17748700.6T patent/LT3658689T/lt unknown
- 2017-07-26 EA EA202090325A patent/EA202090325A1/ru unknown
- 2017-07-26 SI SI201730718T patent/SI3658689T1/sl unknown
- 2017-07-26 EP EP17748700.6A patent/EP3658689B1/en active Active
-
2021
- 2021-06-22 CY CY20211100548T patent/CY1124409T1/el unknown
Also Published As
| Publication number | Publication date |
|---|---|
| SI3658689T1 (sl) | 2021-08-31 |
| EA202090325A1 (ru) | 2020-05-12 |
| LT3658689T (lt) | 2021-06-25 |
| HRP20210826T1 (hr) | 2021-07-09 |
| EP3658689A1 (en) | 2020-06-03 |
| CY1124409T1 (el) | 2022-07-22 |
| HUE055063T2 (hu) | 2021-10-28 |
| EP3658689B1 (en) | 2021-03-24 |
| WO2019020180A1 (en) | 2019-01-31 |
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