JP6240210B2 - 標的シーケンシングリードの正確かつ迅速なマッピング - Google Patents

標的シーケンシングリードの正確かつ迅速なマッピング Download PDF

Info

Publication number
JP6240210B2
JP6240210B2 JP2015544446A JP2015544446A JP6240210B2 JP 6240210 B2 JP6240210 B2 JP 6240210B2 JP 2015544446 A JP2015544446 A JP 2015544446A JP 2015544446 A JP2015544446 A JP 2015544446A JP 6240210 B2 JP6240210 B2 JP 6240210B2
Authority
JP
Japan
Prior art keywords
target region
region
target
alternative
sequence
Prior art date
Legal status (The legal status 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 status listed.)
Active
Application number
JP2015544446A
Other languages
English (en)
Japanese (ja)
Other versions
JP2015536661A5 (https=
JP2015536661A (ja
Inventor
シャオイン チェン
シャオイン チェン
イエン リー
イエン リー
リウ ウェイ−ミン
リウ ウェイ−ミン
シャオジュイ(マックス)マー
トルオン シム−ジャスミン
トルオン シム−ジャスミン
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
F Hoffmann La Roche AG
Original Assignee
F Hoffmann La Roche AG
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 F Hoffmann La Roche AG filed Critical F Hoffmann La Roche AG
Publication of JP2015536661A publication Critical patent/JP2015536661A/ja
Publication of JP2015536661A5 publication Critical patent/JP2015536661A5/ja
Application granted granted Critical
Publication of JP6240210B2 publication Critical patent/JP6240210B2/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search

Landscapes

  • 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)
JP2015544446A 2012-11-29 2013-11-27 標的シーケンシングリードの正確かつ迅速なマッピング Active JP6240210B2 (ja)

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 (3)

Publication Number Publication Date
JP2015536661A JP2015536661A (ja) 2015-12-24
JP2015536661A5 JP2015536661A5 (https=) 2017-01-19
JP6240210B2 true JP6240210B2 (ja) 2017-11-29

Family

ID=49641777

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2015544446A Active JP6240210B2 (ja) 2012-11-29 2013-11-27 標的シーケンシングリードの正確かつ迅速なマッピング

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=)

Families Citing this family (26)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2986436T3 (es) 2011-04-15 2024-11-11 Univ Johns Hopkins Sistema de secuenciación segura
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

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
UY24389A1 (es) * 1995-12-06 2001-10-25 Karlsruhe Forschzent Composición farmacéutica para el tratamiento de carcinoma de epitelio plano
US7809509B2 (en) 2001-05-08 2010-10-05 Ip Genesis, Inc. Comparative mapping and assembly of nucleic acid sequences
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
KR101230180B1 (ko) * 2004-04-23 2013-02-07 옥소니카, 인코포레이티드 표면 강화된 분광 활성 복합 나노입자
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
CA2891731C (en) 2017-09-12
ES2869292T3 (es) 2021-10-25
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

Similar Documents

Publication Publication Date Title
JP6240210B2 (ja) 標的シーケンシングリードの正確かつ迅速なマッピング
AU2023251452B2 (en) Validation methods and systems for sequence variant calls
JP7119014B2 (ja) まれな変異およびコピー数多型を検出するためのシステムおよび方法
JP7013490B2 (ja) 配列バリアントコールのためのバリデーションの方法及びシステム
JP2023523002A (ja) 染色体近接実験における構造的変異検出
CN115083521A (zh) 一种单细胞转录组测序数据中肿瘤细胞类群的鉴定方法及系统
JP2021526857A (ja) 生体試料のフィンガープリンティングのための方法
Griffing et al. Canonical single nucleotide polymorphisms (SNPs) for high-resolution subtyping of Shiga-toxin producing Escherichia coli (STEC) O157: H7
US20220059187A1 (en) Methods of detecting nucleic acid barcodes
JPWO2019132010A1 (ja) 塩基配列における塩基種を推定する方法、装置及びプログラム
CN114974416A (zh) 一种检测相邻多核苷酸变异的方法及装置
JP2021502072A (ja) 脱アミノ化に誘導される配列エラーの補正
HK40010599A (en) Validation methods and systems for sequence variant calls
HK40012524A (en) Validation methods and systems for sequence variant calls
CN121555636A (zh) 一种ctDNA空间组学技术

Legal Events

Date Code Title Description
A529 Written submission of copy of amendment under article 34 pct

Free format text: JAPANESE INTERMEDIATE CODE: A529

Effective date: 20150624

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20161125

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20161125

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20170920

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20171003

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20171102

R150 Certificate of patent or registration of utility model

Ref document number: 6240210

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250