MX2019003344A - Deteccion de variacion de numero de copias somaticas. - Google Patents

Deteccion de variacion de numero de copias somaticas.

Info

Publication number
MX2019003344A
MX2019003344A MX2019003344A MX2019003344A MX2019003344A MX 2019003344 A MX2019003344 A MX 2019003344A MX 2019003344 A MX2019003344 A MX 2019003344A MX 2019003344 A MX2019003344 A MX 2019003344A MX 2019003344 A MX2019003344 A MX 2019003344A
Authority
MX
Mexico
Prior art keywords
copy number
number variation
baseline
variation detection
somatic copy
Prior art date
Application number
MX2019003344A
Other languages
English (en)
Inventor
Yu Chuang Han-
Zhao Chen
Original Assignee
Illumina 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 Illumina Inc filed Critical Illumina Inc
Publication of MX2019003344A publication Critical patent/MX2019003344A/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
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • 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
    • 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
    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Electrotherapy Devices (AREA)
  • Soil Working Implements (AREA)
  • Image Processing (AREA)

Abstract

Se presentan técnicas en la presente para evaluar la variación de número de copias. Las técnicas incluyen generar un valor de referencia representativo de o imitar una muestra coincidente hipotética para una muestra biológica individual a partir de un conjunto de muestras de valor de referencia que no coinciden con la muestra biológica. Los datos de secuenciación normalizados del conjunto de muestras de valor de referencia que incluyen al menos un valor de referencia de número de copia para una región de interés se proporcionan a un usuario.
MX2019003344A 2016-09-22 2017-09-21 Deteccion de variacion de numero de copias somaticas. MX2019003344A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662398354P 2016-09-22 2016-09-22
US201762447065P 2017-01-17 2017-01-17
PCT/US2017/052766 WO2018057770A1 (en) 2016-09-22 2017-09-21 Somatic copy number variation detection

Publications (1)

Publication Number Publication Date
MX2019003344A true MX2019003344A (es) 2019-09-04

Family

ID=60002106

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2019003344A MX2019003344A (es) 2016-09-22 2017-09-21 Deteccion de variacion de numero de copias somaticas.

Country Status (11)

Country Link
US (1) US20230207048A1 (es)
EP (1) EP3516564A1 (es)
JP (1) JP6839268B2 (es)
KR (2) KR102711907B1 (es)
CN (2) CN110024035B (es)
AU (2) AU2017332381A1 (es)
CA (3) CA3213915A1 (es)
MX (1) MX2019003344A (es)
NZ (1) NZ751798A (es)
RU (1) RU2768718C2 (es)
WO (1) WO2018057770A1 (es)

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WO2021114139A1 (zh) * 2019-12-11 2021-06-17 深圳华大基因股份有限公司 一种基于血液循环肿瘤dna的拷贝数变异检测方法和装置
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CN113192555A (zh) * 2021-04-21 2021-07-30 杭州博圣医学检验实验室有限公司 一种通过计算差异等位基因测序深度检测二代测序数据smn基因拷贝数的方法
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Also Published As

Publication number Publication date
CA3213915A1 (en) 2018-03-29
US20230207048A1 (en) 2023-06-29
KR102416441B1 (ko) 2022-07-04
WO2018057770A1 (en) 2018-03-29
RU2019111924A3 (es) 2020-10-22
KR20220098812A (ko) 2022-07-12
AU2021200154B2 (en) 2022-12-15
AU2021200154A1 (en) 2021-03-18
CN110024035B (zh) 2023-11-14
EP3516564A1 (en) 2019-07-31
RU2768718C2 (ru) 2022-03-24
CA3214358A1 (en) 2018-03-29
KR102711907B1 (ko) 2024-09-27
CN117352050A (zh) 2024-01-05
JP2019537095A (ja) 2019-12-19
JP6839268B2 (ja) 2021-03-03
CA3037917C (en) 2024-05-28
CA3037917A1 (en) 2018-03-29
AU2017332381A1 (en) 2019-04-18
NZ751798A (en) 2022-02-25
RU2019111924A (ru) 2020-10-22
KR20190058556A (ko) 2019-05-29
CN110024035A (zh) 2019-07-16

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