CN112334983A - 用于检测和抑制由融合事件引起的比对错误的方法 - Google Patents

用于检测和抑制由融合事件引起的比对错误的方法 Download PDF

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Publication number
CN112334983A
CN112334983A CN201980040108.4A CN201980040108A CN112334983A CN 112334983 A CN112334983 A CN 112334983A CN 201980040108 A CN201980040108 A CN 201980040108A CN 112334983 A CN112334983 A CN 112334983A
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sequence
reads
sequence reads
nucleic acid
gene
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CN201980040108.4A
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Chinese (zh)
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卡罗·阿尔蒂耶里
马尔辛·西科拉
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Guardant Health Inc
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Guardant Health Inc
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    • 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
    • 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
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • 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
    • 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
    • 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

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  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Public Health (AREA)
  • Molecular Biology (AREA)
  • Epidemiology (AREA)
  • Genetics & Genomics (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Biomedical Technology (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Pathology (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN201980040108.4A 2018-04-13 2019-04-12 用于检测和抑制由融合事件引起的比对错误的方法 Pending CN112334983A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862657200P 2018-04-13 2018-04-13
US62/657,200 2018-04-13
PCT/US2019/027337 WO2019200328A1 (en) 2018-04-13 2019-04-12 Methods for detecting and suppressing alignment errors caused by fusion events

Publications (1)

Publication Number Publication Date
CN112334983A true CN112334983A (zh) 2021-02-05

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CN201980040108.4A Pending CN112334983A (zh) 2018-04-13 2019-04-12 用于检测和抑制由融合事件引起的比对错误的方法

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US (1) US12322476B2 (https=)
EP (1) EP3785268A4 (https=)
JP (1) JP7546486B2 (https=)
CN (1) CN112334983A (https=)
AU (1) AU2019252947A1 (https=)
WO (1) WO2019200328A1 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112687341B (zh) * 2021-03-12 2021-06-04 上海思路迪医学检验所有限公司 一种以断点为中心的染色体结构变异鉴定方法
US20230207054A1 (en) * 2021-12-29 2023-06-29 Illumina, Inc. Deep learning network for evolutionary conservation

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20140315199A1 (en) * 2013-04-17 2014-10-23 Life Technologies Corporation Gene fusions and gene variants associated with cancer
US20150191795A1 (en) * 2010-11-19 2015-07-09 The Regents Of The University Of Michigan Raf gene fusions
CN105408496A (zh) * 2013-03-15 2016-03-16 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
CN106062214A (zh) * 2013-12-28 2016-10-26 夸登特健康公司 用于检测遗传变异的方法和系统
US20170240972A1 (en) * 2015-10-10 2017-08-24 Guardant Health, Inc. Methods and applications of gene fusion detection in cell-free dna analysis

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Publication number Priority date Publication date Assignee Title
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
WO2003046146A2 (en) 2001-11-28 2003-06-05 Applera Corporation Compositions and methods of selective nucleic acid isolation
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
CN107075730A (zh) 2014-09-12 2017-08-18 利兰·斯坦福青年大学托管委员会 循环核酸的鉴定及用途
EP3625713A1 (en) 2017-05-19 2020-03-25 Guardant Health, Inc. Methods and systems for detecting insertions and deletions

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150191795A1 (en) * 2010-11-19 2015-07-09 The Regents Of The University Of Michigan Raf gene fusions
CN105408496A (zh) * 2013-03-15 2016-03-16 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
US20140315199A1 (en) * 2013-04-17 2014-10-23 Life Technologies Corporation Gene fusions and gene variants associated with cancer
CN106062214A (zh) * 2013-12-28 2016-10-26 夸登特健康公司 用于检测遗传变异的方法和系统
US20170240972A1 (en) * 2015-10-10 2017-08-24 Guardant Health, Inc. Methods and applications of gene fusion detection in cell-free dna analysis

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
KIM, D等: ""TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions"", 《GENOME BIOLOGY》, vol. 14, no. 4, pages 1 - 13 *

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Publication number Publication date
AU2019252947A1 (en) 2020-10-29
US20200020416A1 (en) 2020-01-16
WO2019200328A1 (en) 2019-10-17
US12322476B2 (en) 2025-06-03
JP2021520810A (ja) 2021-08-26
EP3785268A1 (en) 2021-03-03
JP7546486B2 (ja) 2024-09-06
CA3096261A1 (en) 2019-10-17
EP3785268A4 (en) 2022-01-05

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