JP7497879B2 - 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途 - Google Patents

核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途 Download PDF

Info

Publication number
JP7497879B2
JP7497879B2 JP2020564200A JP2020564200A JP7497879B2 JP 7497879 B2 JP7497879 B2 JP 7497879B2 JP 2020564200 A JP2020564200 A JP 2020564200A JP 2020564200 A JP2020564200 A JP 2020564200A JP 7497879 B2 JP7497879 B2 JP 7497879B2
Authority
JP
Japan
Prior art keywords
mixture
nucleic acid
sequence
strand
sequencing
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
JP2020564200A
Other languages
English (en)
Japanese (ja)
Other versions
JP2021524736A (ja
JP2021524736A5 (https=
Inventor
ソーク,ジェシー・ジェイ
バレンタイン,チャールズ・クリントン・ザ・サード
ダナハー,パトリック
ロ,ファン・イン
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.)
Twinstrand Biosciences Inc
Original Assignee
Twinstrand Biosciences Inc
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 Twinstrand Biosciences Inc filed Critical Twinstrand Biosciences Inc
Publication of JP2021524736A publication Critical patent/JP2021524736A/ja
Publication of JP2021524736A5 publication Critical patent/JP2021524736A5/ja
Priority to JP2024083844A priority Critical patent/JP2024116167A/ja
Application granted granted Critical
Publication of JP7497879B2 publication Critical patent/JP7497879B2/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

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
    • 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
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6858Allele-specific amplification
    • 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
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • 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
    • C12Q2537/00Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/143Multiplexing, i.e. use of multiple primers or probes in a single reaction, usually for simultaneously analyse of multiple analysis
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer sets for multiplex assays
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
JP2020564200A 2018-05-16 2019-05-16 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途 Active JP7497879B2 (ja)

Priority Applications (1)

Application Number Priority Date Filing Date Title
JP2024083844A JP2024116167A (ja) 2018-05-16 2024-05-23 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201862672573P 2018-05-16 2018-05-16
US62/672,573 2018-05-16
US201962811517P 2019-02-27 2019-02-27
US62/811,517 2019-02-27
PCT/US2019/032755 WO2019222560A1 (en) 2018-05-16 2019-05-16 Methods and reagents for resolving nucleic acid mixtures and mixed cell populations and associated applications

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2024083844A Division JP2024116167A (ja) 2018-05-16 2024-05-23 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Publications (3)

Publication Number Publication Date
JP2021524736A JP2021524736A (ja) 2021-09-16
JP2021524736A5 JP2021524736A5 (https=) 2022-05-24
JP7497879B2 true JP7497879B2 (ja) 2024-06-11

Family

ID=68540783

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2020564200A Active JP7497879B2 (ja) 2018-05-16 2019-05-16 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途
JP2024083844A Pending JP2024116167A (ja) 2018-05-16 2024-05-23 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Family Applications After (1)

Application Number Title Priority Date Filing Date
JP2024083844A Pending JP2024116167A (ja) 2018-05-16 2024-05-23 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Country Status (10)

Country Link
US (2) US20210292836A1 (https=)
EP (1) EP3794120A4 (https=)
JP (2) JP7497879B2 (https=)
KR (1) KR102873073B1 (https=)
CN (1) CN112218956A (https=)
AU (1) AU2019269635A1 (https=)
BR (1) BR112020023296A2 (https=)
CA (1) CA3099819A1 (https=)
SG (1) SG11202011050TA (https=)
WO (1) WO2019222560A1 (https=)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2024116167A (ja) * 2018-05-16 2024-08-27 ツインストランド・バイオサイエンシズ・インコーポレイテッド 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
CA3006792A1 (en) 2015-12-08 2017-06-15 Twinstrand Biosciences, Inc. Improved adapters, methods, and compositions for duplex sequencing
SG11201906428SA (en) 2017-01-18 2019-08-27 Illumina Inc Methods and systems for generation and error-correction of unique molecular index sets with heterogeneous molecular lengths
AU2018261332B2 (en) 2017-05-01 2024-12-05 Illumina, Inc. Optimal index sequences for multiplex massively parallel sequencing
EP3622089B1 (en) 2017-05-08 2024-07-17 Illumina, Inc. Method for sequencing using universal short adapters for indexing of polynucleotide samples
US11447818B2 (en) 2017-09-15 2022-09-20 Illumina, Inc. Universal short adapters with variable length non-random unique molecular identifiers
AU2018366213B2 (en) 2017-11-08 2025-05-15 Twinstrand Biosciences, Inc. Reagents and adapters for nucleic acid sequencing and methods for making such reagents and adapters
BR112021000409A2 (pt) 2018-07-12 2021-04-06 Twinstrand Biosciences, Inc. Métodos e reagentes para caracterizar edição genômica, expansão clonal e aplicações associadas
CN120877853A (zh) * 2025-07-03 2025-10-31 武汉海希生物科技有限公司 一种基于二代测序数据检测嵌合率的方法和系统

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2013532494A (ja) 2010-08-06 2013-08-19 アリオサ ダイアグノスティックス インコーポレイテッド 試料中の発生源寄与の決定のためのアッセイシステム
WO2013142389A1 (en) 2012-03-20 2013-09-26 University Of Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
WO2017100441A1 (en) 2015-12-08 2017-06-15 Twinstrand Biosciences, Inc. Improved adapters, methods, and compositions for duplex sequencing
WO2017139492A1 (en) 2016-02-09 2017-08-17 Toma Biosciences, Inc. Systems and methods for analyzing nucelic acids

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130040375A1 (en) * 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US10689706B2 (en) * 2015-07-20 2020-06-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in a DNA mixture
IL269431B2 (en) * 2017-03-23 2025-05-01 Univ Washington Methods for targeted nucleic acid sequence enrichment with applications to error corrected nucleic acid sequencing
CA3093846A1 (en) * 2018-03-15 2019-09-19 Twinstrand Biosciences, Inc. Methods and reagents for enrichment of nucleic acid material for sequencing applications and other nucleic acid material interrogations
WO2019222560A1 (en) * 2018-05-16 2019-11-21 Twinstrand Biosciences, Inc. Methods and reagents for resolving nucleic acid mixtures and mixed cell populations and associated applications
BR112021000409A2 (pt) * 2018-07-12 2021-04-06 Twinstrand Biosciences, Inc. Métodos e reagentes para caracterizar edição genômica, expansão clonal e aplicações associadas

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2013532494A (ja) 2010-08-06 2013-08-19 アリオサ ダイアグノスティックス インコーポレイテッド 試料中の発生源寄与の決定のためのアッセイシステム
WO2013142389A1 (en) 2012-03-20 2013-09-26 University Of Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
WO2017100441A1 (en) 2015-12-08 2017-06-15 Twinstrand Biosciences, Inc. Improved adapters, methods, and compositions for duplex sequencing
WO2017139492A1 (en) 2016-02-09 2017-08-17 Toma Biosciences, Inc. Systems and methods for analyzing nucelic acids

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
Salk J J. et al.,Nat Rev Genet,2018年03月26日,Vol. 19,pp. 269-285
Schmitt M W. et al.,Proc Natl Acad Sci USA,2012年,Vol. 109,pp. 14508-14513

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2024116167A (ja) * 2018-05-16 2024-08-27 ツインストランド・バイオサイエンシズ・インコーポレイテッド 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途

Also Published As

Publication number Publication date
AU2019269635A1 (en) 2020-11-26
JP2024116167A (ja) 2024-08-27
JP2021524736A (ja) 2021-09-16
CA3099819A1 (en) 2019-11-21
BR112020023296A2 (pt) 2021-05-04
US20250232837A1 (en) 2025-07-17
EP3794120A4 (en) 2022-03-23
SG11202011050TA (en) 2020-12-30
CN112218956A (zh) 2021-01-12
EP3794120A1 (en) 2021-03-24
WO2019222560A1 (en) 2019-11-21
KR20210013061A (ko) 2021-02-03
KR102873073B1 (ko) 2025-10-17
US20210292836A1 (en) 2021-09-23

Similar Documents

Publication Publication Date Title
JP7497879B2 (ja) 核酸混合物および混合細胞集団を解析するための方法および試薬ならびに関連用途
US12087401B2 (en) Using cell-free DNA fragment size to detect tumor-associated variant
JP7541363B2 (ja) プーリングを介した多数の試料の効率的な遺伝子型決定のための方法および試薬
JP6830094B2 (ja) 染色体異常を検出するための核酸及び方法
EP3274475B1 (en) Alignment and variant sequencing analysis pipeline
EP3642744B1 (en) Methods for accurate computational decomposition of dna mixtures from contributors of unknown genotypes
JP2020529648A (ja) 既知又は未知の遺伝子型の複数のコントリビューターからのdna混合物の分解及び定量化のための方法並びにシステム
Kehl et al. Review of molecular technologies for investigating canine cancer
JP2023526441A (ja) 複合遺伝子バリアントの検出およびフェージングのための方法およびシステム
HK40039254A (en) Methods and reagents for resolving nucleic acid mixtures and mixed cell populations and associated applications
EP4603597A1 (en) Age determination by determining dna methylation levels of selected cpg sites
HK40059649A (en) Methods and reagents for efficient genotyping of large numbers of samples via pooling
ten Bosch et al. Current Massively Parallel Sequencing Technologies: Platforms and Reporting
HK40019713B (en) Methods for accurate computational decomposition of dna mixtures from contributors of unknown genotypes
HK40019713A (en) Methods for accurate computational decomposition of dna mixtures from contributors of unknown genotypes

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220513

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20220513

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20230322

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20230418

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20230718

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20230926

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20231225

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20240208

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20240326

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: 20240423

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20240523

R150 Certificate of patent or registration of utility model

Ref document number: 7497879

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150