KR20220064959A - 낮은 빈도 변이의 검출 및 리포팅을 용이하게 하기 위한 dna 라이브러리 생성 방법 - Google Patents

낮은 빈도 변이의 검출 및 리포팅을 용이하게 하기 위한 dna 라이브러리 생성 방법 Download PDF

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KR20220064959A
KR20220064959A KR1020227007802A KR20227007802A KR20220064959A KR 20220064959 A KR20220064959 A KR 20220064959A KR 1020227007802 A KR1020227007802 A KR 1020227007802A KR 20227007802 A KR20227007802 A KR 20227007802A KR 20220064959 A KR20220064959 A KR 20220064959A
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dna
sequencing
adapter
sequence
read
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Korean (ko)
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모르간 마슈렛
크리스찬 포조리니
아드리안 윌리그
조나단 비엘러
젠위 수
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소피아 제네틱스 에스에이
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • C12N15/1065—Preparation or screening of tagged libraries, e.g. tagged microorganisms by STM-mutagenesis, tagged polynucleotides, gene tags
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/191—Modifications characterised by incorporating an adaptor
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/204—Modifications characterised by specific length of the oligonucleotides
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel sequencing

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biomedical Technology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
KR1020227007802A 2019-09-20 2020-09-21 낮은 빈도 변이의 검출 및 리포팅을 용이하게 하기 위한 dna 라이브러리 생성 방법 Pending KR20220064959A (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP19198542.3A EP3795685A1 (en) 2019-09-20 2019-09-20 Methods for dna library generation to facilitate the detection and reporting of low frequency variants
EP19198542.3 2019-09-20
PCT/EP2020/076246 WO2021053208A1 (en) 2019-09-20 2020-09-21 Methods for dna library generation to facilitate the detection and reporting of low frequency variants

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KR20220064959A true KR20220064959A (ko) 2022-05-19

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KR1020227007802A Pending KR20220064959A (ko) 2019-09-20 2020-09-21 낮은 빈도 변이의 검출 및 리포팅을 용이하게 하기 위한 dna 라이브러리 생성 방법

Country Status (8)

Country Link
US (1) US20220364080A1 (https=)
EP (3) EP3795685A1 (https=)
JP (1) JP2022548504A (https=)
KR (1) KR20220064959A (https=)
AU (1) AU2020349622A1 (https=)
BR (1) BR112022004821A2 (https=)
CA (1) CA3149056A1 (https=)
WO (1) WO2021053208A1 (https=)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IT202200027138A1 (it) 2022-12-29 2024-06-29 Centro Di Riferimento Oncologico Metodo per la correzione di errori nel sequenziamento di acidi nucleici
CN117437978A (zh) * 2023-12-12 2024-01-23 北京旌准医疗科技有限公司 一种二代测序数据的低频基因突变分析方法、装置及其应用
US20260049302A1 (en) 2024-08-14 2026-02-19 Sophia Genetics S.A. Systems and methods for assaying various regions of a genome at different resolutions

Family Cites Families (8)

* 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)
EP3475863B1 (en) 2016-06-22 2023-12-06 Sophia Genetics S.A. Methods for processing next-generation sequencing genomic data
WO2018144159A1 (en) * 2017-01-31 2018-08-09 Counsyl, Inc. Capture probes using positive and negative strands for duplex sequencing
ES2898644T3 (es) * 2017-06-27 2022-03-08 Hoffmann La Roche Adaptadores de ácido nucleico modulares
WO2019084245A1 (en) * 2017-10-27 2019-05-02 Myriad Women's Health, Inc. METHODS AND COMPOSITIONS FOR PREPARING NUCLEIC ACID LIBRARIES
GB201804642D0 (en) * 2018-03-22 2018-05-09 Inivata Ltd Methods of labelling nucleic acids
WO2019204702A1 (en) * 2018-04-20 2019-10-24 Board Of Regents, The University Of Texas System Error-correcting dna barcodes
WO2020043803A1 (en) * 2018-08-28 2020-03-05 Sophia Genetics S.A. Methods for asymmetric dna library generation and optionally integrated duplex sequencing

Also Published As

Publication number Publication date
EP4031664A1 (en) 2022-07-27
EP4031664C0 (en) 2025-02-26
CA3149056A1 (en) 2021-03-25
BR112022004821A2 (pt) 2022-08-23
WO2021053208A1 (en) 2021-03-25
EP3795685A1 (en) 2021-03-24
AU2020349622A1 (en) 2022-03-24
EP4570922A3 (en) 2025-09-17
EP4570922A2 (en) 2025-06-18
EP4031664B1 (en) 2025-02-26
JP2022548504A (ja) 2022-11-21
US20220364080A1 (en) 2022-11-17

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