JP7304852B2 - 脱アミノ化に誘導される配列エラーの補正 - Google Patents

脱アミノ化に誘導される配列エラーの補正 Download PDF

Info

Publication number
JP7304852B2
JP7304852B2 JP2020524480A JP2020524480A JP7304852B2 JP 7304852 B2 JP7304852 B2 JP 7304852B2 JP 2020524480 A JP2020524480 A JP 2020524480A JP 2020524480 A JP2020524480 A JP 2020524480A JP 7304852 B2 JP7304852 B2 JP 7304852B2
Authority
JP
Japan
Prior art keywords
nucleic acid
sequencing
subset
variant
variation
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
JP2020524480A
Other languages
English (en)
Japanese (ja)
Other versions
JP2021502072A5 (https=
JP2021502072A (ja
Inventor
マーシン シコラ,
アンドリュー ケネディ,
アリエル ジャイモビッチ,
ダーリヤ チュドヴァ,
スティーブン フェアクロー,
Original Assignee
ガーダント ヘルス, インコーポレイテッド
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 ガーダント ヘルス, インコーポレイテッド filed Critical ガーダント ヘルス, インコーポレイテッド
Publication of JP2021502072A publication Critical patent/JP2021502072A/ja
Publication of JP2021502072A5 publication Critical patent/JP2021502072A5/ja
Priority to JP2023030896A priority Critical patent/JP7606554B2/ja
Application granted granted Critical
Publication of JP7304852B2 publication Critical patent/JP7304852B2/ja
Priority to JP2024218936A priority patent/JP2025028203A/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • C12Q1/6874Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • 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
    • G16B25/00ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
JP2020524480A 2017-11-03 2018-11-02 脱アミノ化に誘導される配列エラーの補正 Active JP7304852B2 (ja)

Priority Applications (2)

Application Number Priority Date Filing Date Title
JP2023030896A JP7606554B2 (ja) 2017-11-03 2023-03-01 脱アミノ化に誘導される配列エラーの補正
JP2024218936A JP2025028203A (ja) 2017-11-03 2024-12-13 脱アミノ化に誘導される配列エラーの補正

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762581609P 2017-11-03 2017-11-03
US62/581,609 2017-11-03
PCT/US2018/059056 WO2019090147A1 (en) 2017-11-03 2018-11-02 Correcting for deamination-induced sequence errors

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2023030896A Division JP7606554B2 (ja) 2017-11-03 2023-03-01 脱アミノ化に誘導される配列エラーの補正

Publications (3)

Publication Number Publication Date
JP2021502072A JP2021502072A (ja) 2021-01-28
JP2021502072A5 JP2021502072A5 (https=) 2021-12-09
JP7304852B2 true JP7304852B2 (ja) 2023-07-07

Family

ID=66332356

Family Applications (3)

Application Number Title Priority Date Filing Date
JP2020524480A Active JP7304852B2 (ja) 2017-11-03 2018-11-02 脱アミノ化に誘導される配列エラーの補正
JP2023030896A Active JP7606554B2 (ja) 2017-11-03 2023-03-01 脱アミノ化に誘導される配列エラーの補正
JP2024218936A Pending JP2025028203A (ja) 2017-11-03 2024-12-13 脱アミノ化に誘導される配列エラーの補正

Family Applications After (2)

Application Number Title Priority Date Filing Date
JP2023030896A Active JP7606554B2 (ja) 2017-11-03 2023-03-01 脱アミノ化に誘導される配列エラーの補正
JP2024218936A Pending JP2025028203A (ja) 2017-11-03 2024-12-13 脱アミノ化に誘導される配列エラーの補正

Country Status (6)

Country Link
US (3) US11008616B2 (https=)
EP (1) EP3704265A4 (https=)
JP (3) JP7304852B2 (https=)
CN (1) CN111542616A (https=)
CA (1) CA3079252A1 (https=)
WO (1) WO2019090147A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4581625A1 (en) * 2022-08-29 2025-07-09 Foundation Medicine, Inc. Methods and systems for detecting tumor shedding

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150066385A1 (en) 2013-08-30 2015-03-05 10X Technologies, Inc. Sequencing methods
WO2016128758A1 (en) 2015-02-13 2016-08-18 Prokyma Technologies Limited Treatment of a blood sample for sequencing circulating tumour cells
WO2016149261A1 (en) 2015-03-16 2016-09-22 Personal Genome Diagnostics, Inc. Systems and methods for analyzing nucleic acid
JP2017033046A (ja) 2015-07-28 2017-02-09 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
WO2017136603A1 (en) 2016-02-02 2017-08-10 Guardant Health, Inc. Cancer evolution detection and diagnostic

Family Cites Families (20)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
AU7089600A (en) * 1999-08-30 2001-03-26 U.S. Army Medical Research Institute Of Infectious Diseases Monoclonal antibodies and vaccines against epitopes on the ebola virus glycoprotein
WO2003046146A2 (en) 2001-11-28 2003-06-05 Applera Corporation Compositions and methods of selective nucleic acid isolation
JP2008512129A (ja) * 2004-09-10 2008-04-24 セクエノム,インコーポレイティド 核酸の広範囲配列分析法
US8486630B2 (en) * 2008-11-07 2013-07-16 Industrial Technology Research Institute Methods for accurate sequence data and modified base position determination
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
ES2523140T3 (es) * 2010-09-21 2014-11-21 Population Genetics Technologies Ltd. Aumento de la confianza en las identificaciones de alelos con el recuento molecular
WO2013138510A1 (en) * 2012-03-13 2013-09-19 Patel Abhijit Ajit Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
PT2828218T (pt) 2012-03-20 2020-11-11 Univ Washington Through Its Center For Commercialization Métodos para baixar a taxa de erro da sequenciação paralela massiva de adn utilizando sequenciação duplex de consensus
CA2867489A1 (en) * 2012-03-30 2013-10-03 Pacific Biosciences Of California, Inc. Methods and composition for sequencing modified nucleic acids
EP2677449A1 (en) * 2012-06-19 2013-12-25 Sjöblom, Tobias Method and device for efficient calculation of allele ratio confidence intervals and uses thereof
US9092401B2 (en) * 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
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
CA2905429A1 (en) * 2013-03-14 2014-10-02 Abbott Molecular Inc. Minimizing errors using uracil-dna-n-glycosylase
CN114574581A (zh) * 2013-03-15 2022-06-03 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
US9163284B2 (en) * 2013-08-09 2015-10-20 President And Fellows Of Harvard College Methods for identifying a target site of a Cas9 nuclease
WO2015164432A1 (en) * 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP4170044B1 (en) * 2014-06-06 2026-03-11 Cornell University Method for identification and enumeration of nucleic acid sequence, expression, copy, or dna methylation changes, using combined nuclease, ligase, polymerase, and sequencing reactions
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
CN109511265B (zh) * 2016-05-16 2023-07-14 安可济控股有限公司 通过链鉴定改进测序的方法

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150066385A1 (en) 2013-08-30 2015-03-05 10X Technologies, Inc. Sequencing methods
WO2016128758A1 (en) 2015-02-13 2016-08-18 Prokyma Technologies Limited Treatment of a blood sample for sequencing circulating tumour cells
WO2016149261A1 (en) 2015-03-16 2016-09-22 Personal Genome Diagnostics, Inc. Systems and methods for analyzing nucleic acid
JP2017033046A (ja) 2015-07-28 2017-02-09 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
WO2017136603A1 (en) 2016-02-02 2017-08-10 Guardant Health, Inc. Cancer evolution detection and diagnostic

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
Briggs A. et.al.,Preparation of next-generation sequencing libraries from damaged DNA,Methods in molecular biology,vol.840,2012年,pp.143-154
Chen L. et.al.,DNA damage is a major cause of sequencing errors, directly confounding variant identification,Biorxiv,2016年08月23日,doi: https://doi.org/10.1101/070334
Chen, G. et.al.,Cytosine deamination is a major cause of baseline noise in next generation sequencing,Mol. diagn. ther.,2014年,vol.18, no.5,pp.587-593
Starrett, G.J. et.al.,The DNA cytosine deaminase APOBEC3H haplotype I likely contributes to breast and lung cancer mutagenesis,Nature communications,2016年,vol.7,pp.1-13, doi: 10.1038/ncomms12918

Also Published As

Publication number Publication date
EP3704265A1 (en) 2020-09-09
US11718873B2 (en) 2023-08-08
CN111542616A (zh) 2020-08-14
JP7606554B2 (ja) 2024-12-25
JP2025028203A (ja) 2025-02-28
US20240141425A1 (en) 2024-05-02
CA3079252A1 (en) 2019-05-09
US20210395816A1 (en) 2021-12-23
US20200377941A1 (en) 2020-12-03
US11008616B2 (en) 2021-05-18
WO2019090147A1 (en) 2019-05-09
EP3704265A4 (en) 2021-09-29
JP2021502072A (ja) 2021-01-28
JP2023060046A (ja) 2023-04-27

Similar Documents

Publication Publication Date Title
JP7696975B2 (ja) 腫瘍遺伝子変異量の正規化
JP7242644B2 (ja) 体細胞および生殖細胞系統バリアントを鑑別するための方法およびシステム
US12106825B2 (en) Computational modeling of loss of function based on allelic frequency
JP2024056984A (ja) エピジェネティック区画アッセイを較正するための方法、組成物およびシステム
JP2025028203A (ja) 脱アミノ化に誘導される配列エラーの補正
US20220068433A1 (en) Computational detection of copy number variation at a locus in the absence of direct measurement of the locus

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20211101

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20211101

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20220823

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20220901

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20221130

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20230131

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20230301

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: 20230530

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20230627

R150 Certificate of patent or registration of utility model

Ref document number: 7304852

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150