GB2522087A - Methods and systems for genetic analysis - Google Patents

Methods and systems for genetic analysis Download PDF

Info

Publication number
GB2522087A
GB2522087A GB1410424.4A GB201410424A GB2522087A GB 2522087 A GB2522087 A GB 2522087A GB 201410424 A GB201410424 A GB 201410424A GB 2522087 A GB2522087 A GB 2522087A
Authority
GB
United Kingdom
Prior art keywords
sequence information
methods
systems
nucleic acid
acid sample
Prior art date
Legal status (The legal status 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 status listed.)
Granted
Application number
GB1410424.4A
Other versions
GB2522087B (en
GB201410424D0 (en
Inventor
Gabor T Bartha
Gemma Chandratillake
Richard Chen
Sarah Garcia
Hugo Yu Kor Lam
Shujun Luo
Mark R Pratt
John West
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Personalis Inc
Original Assignee
Personalis 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
Application filed by Personalis Inc filed Critical Personalis Inc
Priority claimed from PCT/US2013/078123 external-priority patent/WO2014113204A1/en
Publication of GB201410424D0 publication Critical patent/GB201410424D0/en
Publication of GB2522087A publication Critical patent/GB2522087A/en
Application granted granted Critical
Publication of GB2522087B publication Critical patent/GB2522087B/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • 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
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/12—Computing arrangements based on biological models using genetic models
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H15/00—ICT specially adapted for medical reports, e.g. generation or transmission thereof
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/159—Reduction of complexity, e.g. amplification of subsets, removing duplicated genomic regions

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Zoology (AREA)
  • Artificial Intelligence (AREA)
  • Data Mining & Analysis (AREA)
  • Biochemistry (AREA)
  • Public Health (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Computational Linguistics (AREA)
  • Primary Health Care (AREA)
  • Evolutionary Computation (AREA)
  • Computing Systems (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Physics (AREA)
  • Software Systems (AREA)
  • Epidemiology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.
GB1410424.4A 2013-12-27 2013-12-27 Methods and systems for genetic analysis Active GB2522087B (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/US2013/078123 WO2014113204A1 (en) 2013-01-17 2013-12-27 Methods and systems for genetic analysis

Publications (3)

Publication Number Publication Date
GB201410424D0 GB201410424D0 (en) 2014-07-23
GB2522087A true GB2522087A (en) 2015-07-15
GB2522087B GB2522087B (en) 2016-02-17

Family

ID=51267103

Family Applications (1)

Application Number Title Priority Date Filing Date
GB1410424.4A Active GB2522087B (en) 2013-12-27 2013-12-27 Methods and systems for genetic analysis

Country Status (1)

Country Link
GB (1) GB2522087B (en)

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0281927A2 (en) * 1987-03-11 1988-09-14 Bayer Corporation Assay for nucleic acid sequences in a sample
US20020006615A1 (en) * 1997-05-12 2002-01-17 Goldsborough Mindy D. Methods for the storage and synthesis of nucleic acids
US20050042668A1 (en) * 2000-02-15 2005-02-24 Perlin Mark W. Method and system for DNA analysis
US20110009296A1 (en) * 2007-01-26 2011-01-13 Illumina, Inc. Nucleic acid sequencing system and method
US20120270206A1 (en) * 2003-08-06 2012-10-25 University Of Massachusetts Systems and Methods for Analyzing Nucleic Acid Sequences

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0281927A2 (en) * 1987-03-11 1988-09-14 Bayer Corporation Assay for nucleic acid sequences in a sample
US20020006615A1 (en) * 1997-05-12 2002-01-17 Goldsborough Mindy D. Methods for the storage and synthesis of nucleic acids
US20050042668A1 (en) * 2000-02-15 2005-02-24 Perlin Mark W. Method and system for DNA analysis
US20120270206A1 (en) * 2003-08-06 2012-10-25 University Of Massachusetts Systems and Methods for Analyzing Nucleic Acid Sequences
US20110009296A1 (en) * 2007-01-26 2011-01-13 Illumina, Inc. Nucleic acid sequencing system and method

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
Nature Biotechnology, Vol 25, 2011, MJ Clark et al, "Performance comparison of exome DNA sequencing technologies", 908-14 *
Nature Methods, Vol 5, 2008, DW Craig et al, "Identification of genetic variants using bar-coded multiplexed sequencing", 887-93 *

Also Published As

Publication number Publication date
GB2522087B (en) 2016-02-17
GB201410424D0 (en) 2014-07-23

Similar Documents

Publication Publication Date Title
GB2568608A (en) Personalized genetic testing
GB2534067A (en) Methods and systems for genomic analysis
MX2016016713A (en) Processes and systems for nucleic acid sequence assembly.
SG11201811793PA (en) Risk analysis system and risk analysis method
WO2012024658A3 (en) Integrated analysis system
EP3350806A4 (en) Systems and methods for identifying human emotions and/or mental health states based on analyses of audio inputs and/or behavioral data collected from computing devices
MX2021001694A (en) Systems and methods for providing animal health, nutrition, and/or wellness recommendations.
MX2016016902A (en) Methods of analyzing nucleic acids from individual cells or cell populations.
WO2012129507A8 (en) Adaptive analytical behavioral and health assistant system and related method of use
BR112015023883A2 (en) method for evaluating treatment plans for the application of radiotherapy to a patient; computer readable non-transient media; and system for evaluating a radiation treatment plan
MX2017004620A (en) Monitoring information providing device and method.
MX2016006455A (en) Active-source-pixel, integrated device for rapid analysis of biological and chemical speciments.
MX2015012856A (en) Multiple sensors for monitoring health and wellness of an animal.
WO2014116851A3 (en) Methods and systems for using a cloud computing environment to share biological related data
EP2854059A3 (en) Method for storage and communication of personal genomic or medical information
MX391111B (en) Genetic and genealogical analysis for identification of birth location and surname information
EP2800404A3 (en) Information providing apparatus and method thereof
WO2015102919A3 (en) Modular image analysis system and method
WO2015195836A3 (en) Systems and methods for assessing patient readmission risk and selecting post-acute care intervention
EP4418712A3 (en) Management of multiple devices within an analyte monitoring environment
MX2015012319A (en) Analytical instrument systems.
EP2816431A3 (en) Information platform for industrial automation stream-based data processing
EP3870048A4 (en) Devices and processing systems configured to enable physiological event prediction based on blepharometric data analysis
IL234823B (en) System and method of interactive navigation of subject's treatment
GB2522087A (en) Methods and systems for genetic analysis