KR102601593B1 - 라이브러리 제작 및 서열 분석을 위한 조성물 및 방법 - Google Patents

라이브러리 제작 및 서열 분석을 위한 조성물 및 방법 Download PDF

Info

Publication number
KR102601593B1
KR102601593B1 KR1020197033449A KR20197033449A KR102601593B1 KR 102601593 B1 KR102601593 B1 KR 102601593B1 KR 1020197033449 A KR1020197033449 A KR 1020197033449A KR 20197033449 A KR20197033449 A KR 20197033449A KR 102601593 B1 KR102601593 B1 KR 102601593B1
Authority
KR
South Korea
Prior art keywords
dna
homo sapiens
delete delete
sequence
stranded
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
KR1020197033449A
Other languages
English (en)
Korean (ko)
Other versions
KR20190140961A (ko
Inventor
제프리 에이. 골
아타르바 고어
루이 리우
Original Assignee
싱글레라 제노믹스, 인코포레이티드
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 싱글레라 제노믹스, 인코포레이티드 filed Critical 싱글레라 제노믹스, 인코포레이티드
Publication of KR20190140961A publication Critical patent/KR20190140961A/ko
Application granted granted Critical
Publication of KR102601593B1 publication Critical patent/KR102601593B1/ko
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/10Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034Isolating an individual clone by screening libraries
    • C12N15/1093General methods of preparing gene libraries, not provided for in other subgroups
    • 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
    • C40COMBINATORIAL TECHNOLOGY
    • C40BCOMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B40/00Libraries per se, e.g. arrays, mixtures
    • C40B40/04Libraries containing only organic compounds
    • C40B40/06Libraries containing nucleotides or polynucleotides, or derivatives thereof
    • CCHEMISTRY; METALLURGY
    • C40COMBINATORIAL TECHNOLOGY
    • C40BCOMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B50/00Methods of creating libraries, e.g. combinatorial synthesis
    • C40B50/14Solid phase synthesis, i.e. wherein one or more library building blocks are bound to a solid support during library creation; Particular methods of cleavage from the solid support
    • 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
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/50Other enzymatic activities
    • C12Q2521/501Ligase
    • 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
    • C12Q2525/00Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10Modifications characterised by
    • C12Q2525/191Modifications characterised by incorporating an adaptor
    • 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
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive parallel sequencing

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Biomedical Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Immunology (AREA)
  • Plant Pathology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Structural Engineering (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Sampling And Sample Adjustment (AREA)
  • Analysing Materials By The Use Of Radiation (AREA)
  • Polyurethanes Or Polyureas (AREA)
  • Peptides Or Proteins (AREA)
KR1020197033449A 2017-04-19 2018-04-18 라이브러리 제작 및 서열 분석을 위한 조성물 및 방법 Active KR102601593B1 (ko)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201762487423P 2017-04-19 2017-04-19
US62/487,423 2017-04-19
US201862657544P 2018-04-13 2018-04-13
US62/657,544 2018-04-13
PCT/US2018/028191 WO2018195217A1 (en) 2017-04-19 2018-04-18 Compositions and methods for library construction and sequence analysis

Publications (2)

Publication Number Publication Date
KR20190140961A KR20190140961A (ko) 2019-12-20
KR102601593B1 true KR102601593B1 (ko) 2023-11-13

Family

ID=63856830

Family Applications (1)

Application Number Title Priority Date Filing Date
KR1020197033449A Active KR102601593B1 (ko) 2017-04-19 2018-04-18 라이브러리 제작 및 서열 분석을 위한 조성물 및 방법

Country Status (10)

Country Link
US (1) US11965157B2 (https=)
EP (1) EP3612641A4 (https=)
JP (1) JP7220200B2 (https=)
KR (1) KR102601593B1 (https=)
CN (1) CN110770354B (https=)
AU (1) AU2018256387A1 (https=)
CA (1) CA3060555A1 (https=)
SG (2) SG11201909618TA (https=)
TW (1) TWI797118B (https=)
WO (1) WO2018195217A1 (https=)

Families Citing this family (19)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2019234843B2 (en) 2018-03-13 2025-12-04 Grail, Inc. Anomalous fragment detection and classification
DE202019005627U1 (de) 2018-04-02 2021-05-31 Grail, Inc. Methylierungsmarker und gezielte Methylierungssondenpanels
US20210164048A1 (en) * 2018-08-07 2021-06-03 Singlera Genomics, Inc. A non-invasive prenatal test with accurate fetal fraction measurement
WO2020069350A1 (en) 2018-09-27 2020-04-02 Grail, Inc. Methylation markers and targeted methylation probe panel
US12234514B2 (en) 2018-12-21 2025-02-25 Grail, Inc. Source of origin deconvolution based on methylation fragments in cell-free DNA samples
CN112080555A (zh) * 2019-06-14 2020-12-15 上海鹍远健康科技有限公司 Dna甲基化检测试剂盒及检测方法
CN110964782A (zh) * 2019-12-09 2020-04-07 上海鹍远健康科技有限公司 单链核酸连接效率检测方法
CN111321208B (zh) * 2020-02-14 2023-10-03 上海厦维医学检验实验室有限公司 一种基于高通量测序的建库方法
BR112021026795A2 (pt) * 2020-02-26 2022-02-15 Illumina Cambridge Ltd Kits para genotipagem
CN111979583B (zh) * 2020-09-10 2023-09-12 杭州求臻医学检验实验室有限公司 一种单链核酸分子高通量测序文库的构建方法及其应用
CN114250298B (zh) * 2020-09-23 2024-09-24 中国医学科学院北京协和医院 胰腺导管腺癌的dna甲基化标志物及其应用
WO2022181858A1 (ko) * 2021-02-26 2022-09-01 지니너스 주식회사 분자 바코딩 효율을 향상시키기 위한 조성물 및 이의 용도
KR102924534B1 (ko) 2021-02-26 2026-02-06 지니너스 주식회사 분자 바코딩 효율을 향상시키기 위한 조성물 및 이의 용도
KR102695246B1 (ko) * 2021-11-25 2024-08-14 안신애 유전체와 후성 유전체 동시 분석 방법 및 분석 시스템
TWI878653B (zh) * 2022-03-03 2025-04-01 宏碁股份有限公司 核醣體rna資料庫的建構方法
US20250297406A1 (en) * 2022-04-18 2025-09-25 Chengdu Boe Optoelectronics Technology Co., Ltd. Adapters, adapter ligation reagent, kit, method for constructing dna library and method for sequencing gene
WO2024015869A2 (en) * 2022-07-12 2024-01-18 University Of Washington Systems and methods for variant detection in cells
KR102892827B1 (ko) * 2022-12-08 2025-12-02 주식회사 아이온셀 Dna 단편의 멀티 결합 조립 반응을 이용한 단일세포의 다중체 전장 시퀀싱 분석방법
WO2025117738A1 (en) * 2023-11-28 2025-06-05 Illumina, Inc. Methods of improving unique molecular index ligation efficiency

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016114970A1 (en) * 2015-01-12 2016-07-21 10X Genomics, Inc. Processes and systems for preparing nucleic acid sequencing libraries and libraries prepared using same

Family Cites Families (29)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2005040399A2 (en) 2003-10-21 2005-05-06 Orion Genomics Llc Methods for quantitative determination of methylation density in a dna locus
EA013634B1 (ru) 2005-04-15 2010-06-30 Эпиджиномикс Аг Способы и нуклеиновые кислоты для анализов клеточных пролиферативных нарушений
WO2006113770A1 (en) 2005-04-15 2006-10-26 Epigenomics Ag A method for providing dna fragments derived from a remote sample
US7582405B2 (en) 2005-10-26 2009-09-01 Hewlett-Packard Development Company, L.P. Image recording media and image layers
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
US7901882B2 (en) 2006-03-31 2011-03-08 Affymetrix, Inc. Analysis of methylation using nucleic acid arrays
US20080261217A1 (en) 2006-10-17 2008-10-23 Melnikov Anatoliy A Methylation Profile of Cancer
EP2542698B1 (en) 2010-03-03 2015-04-22 Zymo Research Corporation Detection of dna methylation
CA2826696C (en) 2011-02-02 2019-12-03 Mayo Foundation For Medical Education And Research Digital sequence analysis of dna methylation
NO2729579T3 (https=) 2011-07-08 2018-03-03
EP4001436B1 (en) 2012-05-11 2024-03-13 Clinical Genomics Pty. Ltd. Diagnostic gene marker panel
US20150011396A1 (en) * 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
US20140093873A1 (en) 2012-07-13 2014-04-03 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10179933B2 (en) 2013-02-07 2019-01-15 Yissum Research Development Company Of The Hebrew University Of Jerusalem Ltd. Hybrid nanopores and uses thereof for detection of analytes
EP2959016A4 (en) * 2013-02-21 2016-10-12 Toma Biosciences Inc METHOD, COMPOSITIONS AND NUCLEIC ACID ANALYSIS KITS
ES2746237T3 (es) 2013-03-14 2020-03-05 Univ Cornell Método para la cuantificación relativa de cambios en la metilación del ADN, usando reacciones combinadas de nucleasa, ligamiento, y polimerasa
CN120700143A (zh) 2014-03-31 2025-09-26 梅奥医学教育和研究基金会 检测结直肠赘生物
CA2951141C (en) 2014-06-04 2021-11-30 Quest Diagnostics Investments Incorporated Methylated markers for colorectal cancer
JP6810612B2 (ja) 2014-06-05 2021-01-06 クリニカル ジェノミクス ピーティーワイ リミテッド メチル化分析のための方法
US10480021B2 (en) 2014-06-23 2019-11-19 Yale University Methods for closed chromatin mapping and DNA methylation analysis for single cells
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US9984201B2 (en) 2015-01-18 2018-05-29 Youhealth Biotech, Limited Method and system for determining cancer status
WO2016172442A1 (en) 2015-04-23 2016-10-27 Quest Diagnostics Investments Incorporated Mlh1 methylation assay
US20170101674A1 (en) * 2015-08-21 2017-04-13 Toma Biosciences, Inc. Methods, compositions, and kits for nucleic acid analysis
GB201515557D0 (en) 2015-09-02 2015-10-14 14M Genomics Ltd Method of sequencing
HUE050491T2 (hu) 2015-11-10 2020-12-28 Eurofins Lifecodexx Gmbh Magzati kromoszomális aneuploidiák kimutatása olyan DNS régiókat alkalmazva, amelyek különbözõképpen vannak metilezve a magzat és a terhes nõstény között
KR102006803B1 (ko) 2016-10-06 2019-08-05 (주)지노믹트리 메틸화 dna 다중 검출방법
CA3060553A1 (en) 2017-04-19 2018-10-25 Singlera Genomics, Inc. Compositions and methods for detection of genomic variance and dna methylation status

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016114970A1 (en) * 2015-01-12 2016-07-21 10X Genomics, Inc. Processes and systems for preparing nucleic acid sequencing libraries and libraries prepared using same

Also Published As

Publication number Publication date
WO2018195217A1 (en) 2018-10-25
CN110770354A (zh) 2020-02-07
AU2018256387A1 (en) 2019-10-31
TWI797118B (zh) 2023-04-01
EP3612641A4 (en) 2021-01-20
SG10202111266VA (en) 2021-11-29
CA3060555A1 (en) 2018-10-25
JP2020517298A (ja) 2020-06-18
TW201842189A (zh) 2018-12-01
CN110770354B (zh) 2024-03-19
US11965157B2 (en) 2024-04-23
KR20190140961A (ko) 2019-12-20
JP7220200B2 (ja) 2023-02-09
SG11201909618TA (en) 2019-11-28
EP3612641A1 (en) 2020-02-26
US20200123538A1 (en) 2020-04-23

Similar Documents

Publication Publication Date Title
KR102601593B1 (ko) 라이브러리 제작 및 서열 분석을 위한 조성물 및 방법
AU2011305445B2 (en) Direct capture, amplification and sequencing of target DNA using immobilized primers
US20210388445A1 (en) Compositions and methods for cancer and neoplasia assessment
WO2018195211A1 (en) Compositions and methods for detection of genomic variance and dna methylation status
CN110719958B (zh) 构建核酸文库的方法和试剂盒
CN114787383A (zh) 一种提高等位基因区分力的pcr方法及pcr试剂盒
HK40023926A (en) Compositions and methods for library construction and sequence analysis
HK40023926B (zh) 用於文库构建和序列分析的组合物和方法
TW202440919A (zh) 用於評估結腸直腸癌之方法及組合物
WO2026060170A1 (en) Methods for nucleic acid sequencing
WO2023225515A1 (en) Compositions and methods for oncology assays
HK40041271A (en) Compositions and methods for cancer or neoplasia assessment
KR20200074561A (ko) 고형체 결합 pna 프로브를 함유하는 pcr 조성물 및 이를 이용한 표적 핵산의 선택적 증폭 방법

Legal Events

Date Code Title Description
PA0105 International application

Patent event date: 20191112

Patent event code: PA01051R01D

Comment text: International Patent Application

PG1501 Laying open of application
PA0201 Request for examination

Patent event code: PA02012R01D

Patent event date: 20210412

Comment text: Request for Examination of Application

E902 Notification of reason for refusal
PE0902 Notice of grounds for rejection

Comment text: Notification of reason for refusal

Patent event date: 20230119

Patent event code: PE09021S01D

E701 Decision to grant or registration of patent right
PE0701 Decision of registration

Patent event code: PE07011S01D

Comment text: Decision to Grant Registration

Patent event date: 20230919

GRNT Written decision to grant
PR0701 Registration of establishment

Comment text: Registration of Establishment

Patent event date: 20231108

Patent event code: PR07011E01D

PR1002 Payment of registration fee

Payment date: 20231109

End annual number: 3

Start annual number: 1

PG1601 Publication of registration