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MX2021004434A - Sistema de seleccion de secuenciacion genomica. - Google Patents

Sistema de seleccion de secuenciacion genomica.

Info

Publication number
MX2021004434A
MX2021004434A MX2021004434A MX2021004434A MX2021004434A MX 2021004434 A MX2021004434 A MX 2021004434A MX 2021004434 A MX2021004434 A MX 2021004434A MX 2021004434 A MX2021004434 A MX 2021004434A MX 2021004434 A MX2021004434 A MX 2021004434A
Authority
MX
Mexico
Prior art keywords
present solution
selection system
calculate
genomic sequencing
quality scores
Prior art date
Application number
MX2021004434A
Other languages
English (en)
Inventor
Christopher Elzinga
Anindya Bhattacharya
Anna Gerasimova
Quoclinh Nguyen
Edward Moler
Original Assignee
Quest Diagnostics Invest Llc
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 Quest Diagnostics Invest Llc filed Critical Quest Diagnostics Invest Llc
Publication of MX2021004434A publication Critical patent/MX2021004434A/es

Links

Classifications

    • 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
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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

Landscapes

  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Bioethics (AREA)
  • Databases & Information Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)

Abstract

Los sistemas y métodos discutidos en la presente pueden calcular estadísticas de secuenciación como profundidad de cubrimiento para datos de secuenciación. La solución presente puede determinar frecuencias de variantes e identificar variantes clínicamente relevantes. La presente solución puede leer archivos de entrada BAM y VCF y clasificaciones de calidad escalada Phred. La presente solución puede seleccionar lecturas de calidad relativamente alta en base a las clasificaciones de calidad y puede calcular las cuentas de alelos de referencia y alternativas para SNPs, inserciones y deleciones (INDEls), y variantes estructurales.
MX2021004434A 2018-10-17 2019-10-16 Sistema de seleccion de secuenciacion genomica. MX2021004434A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862766432P 2018-10-17 2018-10-17
PCT/US2019/056479 WO2020081648A1 (en) 2018-10-17 2019-10-16 Genomic sequencing selection system

Publications (1)

Publication Number Publication Date
MX2021004434A true MX2021004434A (es) 2021-09-10

Family

ID=70284137

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2021004434A MX2021004434A (es) 2018-10-17 2019-10-16 Sistema de seleccion de secuenciacion genomica.

Country Status (7)

Country Link
US (1) US20210313011A1 (es)
EP (1) EP3867400A4 (es)
CN (1) CN113166806A (es)
BR (1) BR112021007293A2 (es)
CA (1) CA3116710A1 (es)
MX (1) MX2021004434A (es)
WO (1) WO2020081648A1 (es)

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1884521A (zh) * 2006-06-21 2006-12-27 北京未名福源基因药物研究中心有限公司 发现新基因的方法和使用的计算机系统平台以及新基因
JP6285929B2 (ja) * 2012-07-17 2018-02-28 カウンシル，インコーポレーテッド 遺伝的変異を検出するためのシステムおよび方法
US9418203B2 (en) * 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
US10216895B2 (en) 2014-05-12 2019-02-26 Roche Molecular Systems, Inc. Rare variant calls in ultra-deep sequencing
SG10201811337XA (en) * 2015-01-13 2019-01-30 10X Genomics Inc Systems and methods for visualizing structural variation and phasing information
EP3274475B1 (en) * 2015-03-26 2024-07-31 Quest Diagnostics Investments Incorporated Alignment and variant sequencing analysis pipeline
US20180300449A1 (en) * 2015-10-10 2018-10-18 Guardant Health, Inc. Methods and applications of gene fusion detection in cell-free dna analysis
SG11202001010UA (en) * 2017-08-07 2020-03-30 Univ Johns Hopkins Methods and materials for assessing and treating cancer

Also Published As

Publication number Publication date
WO2020081648A1 (en) 2020-04-23
EP3867400A1 (en) 2021-08-25
CN113166806A (zh) 2021-07-23
US20210313011A1 (en) 2021-10-07
BR112021007293A2 (pt) 2021-07-27
EP3867400A4 (en) 2022-07-27
CA3116710A1 (en) 2020-04-23

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