CA2891731C - Accurate and fast mapping of targeted sequencing reads - Google Patents

Accurate and fast mapping of targeted sequencing reads Download PDF

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Publication number
CA2891731C
CA2891731C CA2891731A CA2891731A CA2891731C CA 2891731 C CA2891731 C CA 2891731C CA 2891731 A CA2891731 A CA 2891731A CA 2891731 A CA2891731 A CA 2891731A CA 2891731 C CA2891731 C CA 2891731C
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target region
alternate
region
variations
genome
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CA2891731A
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English (en)
French (fr)
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CA2891731A1 (en
Inventor
Xiaoying Chen
Yan Li
Wei-Min Liu
Xiaoju MA (Max)
Sim-Jasmine TRUONG
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F Hoffmann La Roche AG
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F Hoffmann La Roche AG
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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
    • 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

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  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
CA2891731A 2012-11-29 2013-11-27 Accurate and fast mapping of targeted sequencing reads Active CA2891731C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US13/689,314 2012-11-29
US13/689,314 US9218450B2 (en) 2012-11-29 2012-11-29 Accurate and fast mapping of reads to genome
PCT/EP2013/074799 WO2014083023A1 (en) 2012-11-29 2013-11-27 Accurate and fast mapping of targeted sequencing reads

Publications (2)

Publication Number Publication Date
CA2891731A1 CA2891731A1 (en) 2014-06-05
CA2891731C true CA2891731C (en) 2017-09-12

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ID=49641777

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2891731A Active CA2891731C (en) 2012-11-29 2013-11-27 Accurate and fast mapping of targeted sequencing reads

Country Status (7)

Country Link
US (2) US9218450B2 (https=)
EP (1) EP2926288B1 (https=)
JP (1) JP6240210B2 (https=)
CN (1) CN104937598B (https=)
CA (1) CA2891731C (https=)
ES (1) ES2869292T3 (https=)
WO (1) WO2014083023A1 (https=)

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ES2886507T5 (es) 2012-10-29 2024-11-15 Univ Johns Hopkins Prueba de Papanicolaou para cánceres de ovario y de endometrio
CN106462670B (zh) * 2014-05-12 2020-04-10 豪夫迈·罗氏有限公司 超深度测序中的罕见变体召集
WO2016035168A1 (ja) * 2014-09-03 2016-03-10 大塚製薬株式会社 病態判定支援装置、方法、プログラムおよび記録媒体
US20160125130A1 (en) * 2014-11-05 2016-05-05 Agilent Technologies, Inc. Method for assigning target-enriched sequence reads to a genomic location
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9618474B2 (en) 2014-12-18 2017-04-11 Edico Genome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
CA2971589C (en) 2014-12-18 2021-09-28 Edico Genome Corporation Chemically-sensitive field effect transistor
US20160300013A1 (en) * 2015-04-10 2016-10-13 Agilent Technologies, Inc. METHOD FOR SIMULTANEOUS DETECTION OF GENOME-WIDE COPY NUMBER CHANGES, cnLOH, INDELS, AND GENE MUTATIONS
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
JP6675164B2 (ja) * 2015-07-28 2020-04-01 株式会社理研ジェネシス 変異判定方法、変異判定プログラムおよび記録媒体
US11286531B2 (en) 2015-08-11 2022-03-29 The Johns Hopkins University Assaying ovarian cyst fluid
US12071669B2 (en) 2016-02-12 2024-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2017201081A1 (en) 2016-05-16 2017-11-23 Agilome, Inc. Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids
MX2019000762A (es) * 2016-07-21 2019-10-30 Walmart Apollo Llc Caracterizaciones basadas en vectores de productos e individuos con respecto a la seleccion de articulos para ubicaciones de tiendas.
CN111868260B (zh) 2017-08-07 2025-02-21 约翰斯霍普金斯大学 用于评估和治疗癌症的方法和材料
JP7320345B2 (ja) * 2017-10-27 2023-08-03 シスメックス株式会社 遺伝子解析方法、遺伝子解析装置、遺伝子解析システム、プログラム、および記録媒体
JP7054133B2 (ja) * 2017-11-09 2022-04-13 国立研究開発法人国立がん研究センター 配列解析方法、配列解析装置、参照配列の生成方法、参照配列生成装置、プログラム、および記録媒体
CN110366598B (zh) * 2017-12-29 2022-05-10 行动基因生技股份有限公司 序列比对与突变位点分析的方法及系统
KR102933367B1 (ko) 2018-02-27 2026-03-03 코넬 유니버시티 게놈-와이드 통합을 통한 순환 종양 dna의 초민감 검출
EP4103748A4 (en) 2020-02-14 2024-03-13 The Johns Hopkins University METHOD AND MATERIALS FOR ASSESSING NUCLEIC ACIDS
CN111477274B (zh) * 2020-04-02 2020-11-24 上海之江生物科技股份有限公司 微生物目标片段中特异性区域的识别方法、装置及应用
AU2021269069A1 (en) * 2020-05-08 2022-10-20 Illumina, Inc. Genome sequencing and detection techniques

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UY24389A1 (es) * 1995-12-06 2001-10-25 Karlsruhe Forschzent Composición farmacéutica para el tratamiento de carcinoma de epitelio plano
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US20030138778A1 (en) * 2001-11-30 2003-07-24 Garner Harold R. Prediction of disease-causing alleles from sequence context
WO2004104172A2 (en) 2003-05-15 2004-12-02 Bioarray Solutions, Ltd. Hybridization-mediated analysis of polymorphisms
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CN1277924C (zh) * 2004-06-25 2006-10-04 湖南西城杂交水稻基因科技有限公司 利用可转化大片段基因组文库发掘野生稻有利基因的方法
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
US20140066317A1 (en) * 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation

Also Published As

Publication number Publication date
ES2869292T3 (es) 2021-10-25
JP6240210B2 (ja) 2017-11-29
CN104937598B (zh) 2017-11-07
US20160092630A1 (en) 2016-03-31
US20140149049A1 (en) 2014-05-29
CN104937598A (zh) 2015-09-23
US9218450B2 (en) 2015-12-22
EP2926288B1 (en) 2021-03-17
EP2926288A1 (en) 2015-10-07
CA2891731A1 (en) 2014-06-05
WO2014083023A1 (en) 2014-06-05
US10127351B2 (en) 2018-11-13
JP2015536661A (ja) 2015-12-24

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