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CO2019009920A2 - Método y aparato para la representación compacta de datos de bioinformática mediante el uso de múltiples descriptores genómicos - Google Patents

Método y aparato para la representación compacta de datos de bioinformática mediante el uso de múltiples descriptores genómicos

Info

Publication number
CO2019009920A2
CO2019009920A2 CONC2019/0009920A CO2019009920A CO2019009920A2 CO 2019009920 A2 CO2019009920 A2 CO 2019009920A2 CO 2019009920 A CO2019009920 A CO 2019009920A CO 2019009920 A2 CO2019009920 A2 CO 2019009920A2
Authority
CO
Colombia
Prior art keywords
data
compact representation
multiple genomic
bioinformatics data
class
Prior art date
Application number
CONC2019/0009920A
Other languages
English (en)
Inventor
Daniele Renzi
Mohamed Khoso Baluch
Claudio Alberti
Giorgio Zoia
Original Assignee
Genomsys Sa
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
Priority claimed from PCT/EP2016/074311 external-priority patent/WO2018068830A1/en
Priority claimed from PCT/EP2016/074297 external-priority patent/WO2018068827A1/en
Priority claimed from PCT/EP2016/074301 external-priority patent/WO2018068828A1/en
Priority claimed from PCT/EP2016/074307 external-priority patent/WO2018068829A1/en
Priority claimed from PCT/US2018/018092 external-priority patent/WO2018152143A1/en
Application filed by Genomsys Sa filed Critical Genomsys Sa
Publication of CO2019009920A2 publication Critical patent/CO2019009920A2/es

Links

Classifications

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    • G06F16/20Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
    • G06F16/22Indexing; Data structures therefor; Storage structures
    • G06F16/2282Tablespace storage structures; Management thereof
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F16/00Information retrieval; Database structures therefor; File system structures therefor
    • G06F16/20Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
    • G06F16/23Updating
    • G06F16/2365Ensuring data consistency and integrity
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F16/00Information retrieval; Database structures therefor; File system structures therefor
    • G06F16/20Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
    • G06F16/28Databases characterised by their database models, e.g. relational or object models
    • G06F16/284Relational databases
    • G06F16/285Clustering or classification
    • GPHYSICS
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    • G06F21/00Security arrangements for protecting computers, components thereof, programs or data against unauthorised activity
    • G06F21/60Protecting data
    • G06F21/602Providing cryptographic facilities or services
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F21/00Security arrangements for protecting computers, components thereof, programs or data against unauthorised activity
    • G06F21/60Protecting data
    • G06F21/62Protecting access to data via a platform, e.g. using keys or access control rules
    • G06F21/6218Protecting access to data via a platform, e.g. using keys or access control rules to a system of files or objects, e.g. local or distributed file system or database
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F21/00Security arrangements for protecting computers, components thereof, programs or data against unauthorised activity
    • G06F21/60Protecting data
    • G06F21/62Protecting access to data via a platform, e.g. using keys or access control rules
    • G06F21/6218Protecting access to data via a platform, e.g. using keys or access control rules to a system of files or objects, e.g. local or distributed file system or database
    • G06F21/6245Protecting personal data, e.g. for financial or medical purposes
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F3/00Input arrangements for transferring data to be processed into a form capable of being handled by the computer; Output arrangements for transferring data from processing unit to output unit, e.g. interface arrangements
    • G06F3/01Input arrangements or combined input and output arrangements for interaction between user and computer
    • G06F3/048Interaction techniques based on graphical user interfaces [GUI]
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F7/00Methods or arrangements for processing data by operating upon the order or content of the data handled
    • 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
    • G16B20/10Ploidy or copy number detection
    • 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
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • 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
    • G16B30/20Sequence assembly
    • 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
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • 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
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/10Signal processing, e.g. from mass spectrometry [MS] or from PCR
    • 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
    • G16B45/00ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/10Ontologies; Annotations
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/30Data warehousing; Computing architectures
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/40Encryption of genetic data
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/50Compression of genetic data
    • 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
    • G16B99/00Subject matter not provided for in other groups of this subclass
    • HELECTRICITY
    • H03ELECTRONIC CIRCUITRY
    • H03MCODING; DECODING; CODE CONVERSION IN GENERAL
    • H03M7/00Conversion of a code where information is represented by a given sequence or number of digits to a code where the same, similar or subset of information is represented by a different sequence or number of digits
    • H03M7/30Compression; Expansion; Suppression of unnecessary data, e.g. redundancy reduction
    • H03M7/3084Compression; Expansion; Suppression of unnecessary data, e.g. redundancy reduction using adaptive string matching, e.g. the Lempel-Ziv method
    • H03M7/3086Compression; Expansion; Suppression of unnecessary data, e.g. redundancy reduction using adaptive string matching, e.g. the Lempel-Ziv method employing a sliding window, e.g. LZ77
    • HELECTRICITY
    • H03ELECTRONIC CIRCUITRY
    • H03MCODING; DECODING; CODE CONVERSION IN GENERAL
    • H03M7/00Conversion of a code where information is represented by a given sequence or number of digits to a code where the same, similar or subset of information is represented by a different sequence or number of digits
    • H03M7/30Compression; Expansion; Suppression of unnecessary data, e.g. redundancy reduction
    • H03M7/70Type of the data to be coded, other than image and sound

Landscapes

  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Biophysics (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Software Systems (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Computer Security & Cryptography (AREA)
  • Computer Hardware Design (AREA)
  • Public Health (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Human Computer Interaction (AREA)
  • Signal Processing (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Compression, Expansion, Code Conversion, And Decoders (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Labeling Devices (AREA)
  • Detection And Prevention Of Errors In Transmission (AREA)

Abstract

Método y aparato para la compresión de datos de secuencias de genomas producidos por máquinas de secuenciación del genoma. Las lecturas de secuencias se codifican mediante su alineación con respecto a secuencias de referencia preexistentes o construidas, en donde el proceso de codificación está compuesto por una clasificación de las lecturas en clases de datos, a lo cual sigue la codificación de cada clase en términos de una multiplicidad de bloques de descriptores. Se utilizan modelos fuente y codificadores de entropía específicos para cada clase de datos en los que se dividen los datos y para cada bloque de descriptor asociado.
CONC2019/0009920A 2016-10-11 2019-09-12 Método y aparato para la representación compacta de datos de bioinformática mediante el uso de múltiples descriptores genómicos CO2019009920A2 (es)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
PCT/EP2016/074311 WO2018068830A1 (en) 2016-10-11 2016-10-11 Method and system for the transmission of bioinformatics data
PCT/EP2016/074297 WO2018068827A1 (en) 2016-10-11 2016-10-11 Efficient data structures for bioinformatics information representation
PCT/EP2016/074301 WO2018068828A1 (en) 2016-10-11 2016-10-11 Method and system for storing and accessing bioinformatics data
PCT/EP2016/074307 WO2018068829A1 (en) 2016-10-11 2016-10-11 Method and apparatus for compact representation of bioinformatics data
PCT/US2017/017842 WO2018071055A1 (en) 2016-10-11 2017-02-14 Method and apparatus for the compact representation of bioinformatics data
PCT/US2017/041591 WO2018071080A2 (en) 2016-10-11 2017-07-11 Method and systems for the representation and processing of bioinformatics data using reference sequences
PCT/US2018/018092 WO2018152143A1 (en) 2017-02-14 2018-02-14 Method and apparatus for the compact representation of bioinformatics data using multiple genomic descriptors

Publications (1)

Publication Number Publication Date
CO2019009920A2 true CO2019009920A2 (es) 2020-01-17

Family

ID=61905752

Family Applications (6)

Application Number Title Priority Date Filing Date
CONC2019/0003595A CO2019003595A2 (es) 2016-10-11 2019-04-11 Método y sistemas para la representación y procesamiento de datos de bioinformática mediante el uso de secuencias de referencia
CONC2019/0003638A CO2019003638A2 (es) 2016-10-11 2019-04-11 Método y aparato para el acceso a datos bioinformáticos estructurados en unidades de acceso
CONC2019/0003639A CO2019003639A2 (es) 2016-10-11 2019-04-11 Método y sistemas para la indexación de datos bioinformáticos
CONC2019/0003842A CO2019003842A2 (es) 2016-10-11 2019-04-15 Método y sistema para el acceso selectivo de datos bioinformáticos almacenados o transmitidos
CONC2019/0009922A CO2019009922A2 (es) 2016-10-11 2019-09-12 Método y sistemas para la reconstrucción de secuencias genómicas de referencia a partir de lecturas de secuencias genómicas comprimidas
CONC2019/0009920A CO2019009920A2 (es) 2016-10-11 2019-09-12 Método y aparato para la representación compacta de datos de bioinformática mediante el uso de múltiples descriptores genómicos

Family Applications Before (5)

Application Number Title Priority Date Filing Date
CONC2019/0003595A CO2019003595A2 (es) 2016-10-11 2019-04-11 Método y sistemas para la representación y procesamiento de datos de bioinformática mediante el uso de secuencias de referencia
CONC2019/0003638A CO2019003638A2 (es) 2016-10-11 2019-04-11 Método y aparato para el acceso a datos bioinformáticos estructurados en unidades de acceso
CONC2019/0003639A CO2019003639A2 (es) 2016-10-11 2019-04-11 Método y sistemas para la indexación de datos bioinformáticos
CONC2019/0003842A CO2019003842A2 (es) 2016-10-11 2019-04-15 Método y sistema para el acceso selectivo de datos bioinformáticos almacenados o transmitidos
CONC2019/0009922A CO2019009922A2 (es) 2016-10-11 2019-09-12 Método y sistemas para la reconstrucción de secuencias genómicas de referencia a partir de lecturas de secuencias genómicas comprimidas

Country Status (17)

Country Link
US (6) US20200042735A1 (es)
EP (3) EP3526694A4 (es)
JP (4) JP2020505702A (es)
KR (4) KR20190073426A (es)
CN (6) CN110168651A (es)
AU (3) AU2017342688A1 (es)
BR (7) BR112019007359A2 (es)
CA (3) CA3040138A1 (es)
CL (6) CL2019000972A1 (es)
CO (6) CO2019003595A2 (es)
EA (2) EA201990916A1 (es)
IL (3) IL265879B2 (es)
MX (2) MX2019004130A (es)
PE (7) PE20191058A1 (es)
PH (6) PH12019550058A1 (es)
SG (3) SG11201903270RA (es)
WO (4) WO2018071054A1 (es)

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