CN106795568A - 测序读段的de novo组装的方法、系统和过程 - Google Patents

测序读段的de novo组装的方法、系统和过程 Download PDF

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Publication number
CN106795568A
CN106795568A CN201580054801.9A CN201580054801A CN106795568A CN 106795568 A CN106795568 A CN 106795568A CN 201580054801 A CN201580054801 A CN 201580054801A CN 106795568 A CN106795568 A CN 106795568A
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read
contig
reads
overlap
storage medium
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K·康维卡
K·雅各布斯
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Invitae Corp
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Invitae Corp
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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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Medical Informatics (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN201580054801.9A 2014-10-10 2015-10-09 测序读段的de novo组装的方法、系统和过程 Pending CN106795568A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462062636P 2014-10-10 2014-10-10
US62/062,636 2014-10-10
PCT/IB2015/057716 WO2016055971A2 (en) 2014-10-10 2015-10-09 Methods, systems and processes of de novo assembly of sequencing reads

Publications (1)

Publication Number Publication Date
CN106795568A true CN106795568A (zh) 2017-05-31

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CN201580054801.9A Pending CN106795568A (zh) 2014-10-10 2015-10-09 测序读段的de novo组装的方法、系统和过程

Country Status (8)

Country Link
US (1) US20190244678A1 (https=)
EP (1) EP3204522A4 (https=)
JP (1) JP6762932B2 (https=)
CN (1) CN106795568A (https=)
BR (1) BR112017007282A2 (https=)
CA (1) CA2963868A1 (https=)
IL (1) IL251277B (https=)
WO (1) WO2016055971A2 (https=)

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CN110060734A (zh) * 2019-03-29 2019-07-26 天津大学 一种高鲁棒性dna测序用条形码生成和读取方法
CN115938480A (zh) * 2021-09-23 2023-04-07 武汉华大基因技术服务有限公司 长读长测序对基因组组装结果纠错方法优化装置和系统
CN118380052A (zh) * 2024-06-24 2024-07-23 安诺优达基因科技(北京)有限公司 基因组结构预测的方法及电子装置

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US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US12071669B2 (en) 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2018057775A1 (en) * 2016-09-22 2018-03-29 Invitae Corporation Methods, systems and processes of identifying genetic variations
WO2019028189A2 (en) * 2017-08-01 2019-02-07 Human Longevity, Inc. DETERMINING THE STR LENGTH BY SHORT READ SEQUENCING
US11728007B2 (en) 2017-11-30 2023-08-15 Grail, Llc Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly
JP7361774B2 (ja) * 2018-07-27 2023-10-16 ミリアド・ウィメンズ・ヘルス・インコーポレーテッド シーケンスリードの独立したアラインメントおよびペアリングによって高度に相同なシーケンスにおける遺伝的変異を検出するための方法
EP3853763A1 (en) * 2018-09-20 2021-07-28 Aivf Ltd Image feature detection
BR112020026259A2 (pt) * 2018-11-01 2021-07-27 Illumina, Inc. métodos e composições para detecção de variante de linhagem germinativa
CN113557572B (zh) * 2019-01-25 2025-02-07 加利福尼亚太平洋生物科学股份有限公司 基于图的映射核酸片段的系统和方法
SG11202109079YA (en) * 2019-12-05 2021-09-29 Illumina Inc Rapid detection of gene fusions
US12093803B2 (en) * 2020-07-01 2024-09-17 International Business Machines Corporation Downsampling genomic sequence data
CA3184609A1 (en) * 2020-12-11 2022-06-16 Illumina Inc. Methods and systems for visualizing short reads in repetitive regions of the genome
US20240117445A1 (en) * 2021-03-16 2024-04-11 University Of North Texas Health Science Center At Fort Worth Macrohaplotypes for Forensic DNA Mixture Deconvolution

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US20140114582A1 (en) * 2012-10-18 2014-04-24 David A. Mittelman System and method for genotyping using informed error profiles
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WO2013103759A2 (en) * 2012-01-04 2013-07-11 Dow Agrosciences Llc Haplotype based pipeline for snp discovery and/or classification
US20140114582A1 (en) * 2012-10-18 2014-04-24 David A. Mittelman System and method for genotyping using informed error profiles
CN103258145A (zh) * 2012-12-22 2013-08-21 中国科学院深圳先进技术研究院 一种基于De Bruijn图的并行基因拼接方法
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Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110060734A (zh) * 2019-03-29 2019-07-26 天津大学 一种高鲁棒性dna测序用条形码生成和读取方法
CN110060734B (zh) * 2019-03-29 2021-08-13 天津大学 一种高鲁棒性dna测序用条形码生成和读取方法
CN115938480A (zh) * 2021-09-23 2023-04-07 武汉华大基因技术服务有限公司 长读长测序对基因组组装结果纠错方法优化装置和系统
CN118380052A (zh) * 2024-06-24 2024-07-23 安诺优达基因科技(北京)有限公司 基因组结构预测的方法及电子装置

Also Published As

Publication number Publication date
JP2018500625A (ja) 2018-01-11
IL251277A0 (en) 2017-05-29
JP6762932B2 (ja) 2020-09-30
WO2016055971A2 (en) 2016-04-14
CA2963868A1 (en) 2016-04-14
IL251277B (en) 2020-08-31
EP3204522A2 (en) 2017-08-16
EP3204522A4 (en) 2018-06-20
US20190244678A1 (en) 2019-08-08
BR112017007282A2 (pt) 2018-06-19
WO2016055971A3 (en) 2016-06-02

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Application publication date: 20170531