KR102903933B1 - 돌연변이들을 포함하는 동일한 서열로부터 2개의 돌연변이된 서열 판독물이 유래할 확률과 상관된 측정치를 결정하기 위한 방법 - Google Patents

돌연변이들을 포함하는 동일한 서열로부터 2개의 돌연변이된 서열 판독물이 유래할 확률과 상관된 측정치를 결정하기 위한 방법

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KR102903933B1
KR102903933B1 KR1020227010852A KR20227010852A KR102903933B1 KR 102903933 B1 KR102903933 B1 KR 102903933B1 KR 1020227010852 A KR1020227010852 A KR 1020227010852A KR 20227010852 A KR20227010852 A KR 20227010852A KR 102903933 B1 KR102903933 B1 KR 102903933B1
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mutations
mutated
mutated sequence
mers
sequence reads
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KR20220070452A (ko
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아론 얼 달링
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일루미나 싱가포르 피티이 엘티디
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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
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  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
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  • Analytical Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
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  • Theoretical Computer Science (AREA)
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  • Data Mining & Analysis (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Public Health (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Complex Calculations (AREA)
KR1020227010852A 2019-09-30 2020-09-29 돌연변이들을 포함하는 동일한 서열로부터 2개의 돌연변이된 서열 판독물이 유래할 확률과 상관된 측정치를 결정하기 위한 방법 Active KR102903933B1 (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GB201914064A GB201914064D0 (en) 2019-09-30 2019-09-30 Method for determining a measure correlated to the probability that two mutated sequence reads derive from the same sequence comprising mutations
GB1914064.9 2019-09-30
PCT/GB2020/052358 WO2021064365A1 (en) 2019-09-30 2020-09-29 Method for determining a measure correlated to the probability that two mutated sequence reads derive from the same sequence comprising mutations

Publications (2)

Publication Number Publication Date
KR20220070452A KR20220070452A (ko) 2022-05-31
KR102903933B1 true KR102903933B1 (ko) 2025-12-23

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KR1020227010852A Active KR102903933B1 (ko) 2019-09-30 2020-09-29 돌연변이들을 포함하는 동일한 서열로부터 2개의 돌연변이된 서열 판독물이 유래할 확률과 상관된 측정치를 결정하기 위한 방법

Country Status (13)

Country Link
US (1) US20230044570A1 (https=)
EP (1) EP4042430A1 (https=)
JP (1) JP7636400B2 (https=)
KR (1) KR102903933B1 (https=)
CN (1) CN114424288A (https=)
AU (1) AU2020358797A1 (https=)
BR (1) BR112022005730A2 (https=)
CA (1) CA3155101A1 (https=)
GB (1) GB201914064D0 (https=)
IL (1) IL291709B1 (https=)
MX (1) MX2022003605A (https=)
NZ (1) NZ786015A (https=)
WO (1) WO2021064365A1 (https=)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115662523B (zh) * 2022-10-21 2023-06-20 哈尔滨工业大学 面向群体基因组索引表示与构建的方法及设备
JP2026509693A (ja) 2023-03-10 2026-03-25 イルミナ インコーポレイテッド ポリヌクレオチド配列をアセンブルするためのｋ－ｍｅｒベースの方法
WO2025254714A1 (en) 2024-06-03 2025-12-11 Illumina, Inc. System and method for assembling a polynucleotide sequence
WO2025255494A1 (en) 2024-06-07 2025-12-11 Illumina, Inc. Identifying the origin of amplified rna molecules
WO2026072259A1 (en) 2024-09-30 2026-04-02 Illumina, Inc. Methods, systems, and kits for sequencing nucleic acids with deamination and mutagenesis

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040152108A1 (en) 2001-03-28 2004-08-05 Keith Jonathan Macgregor Method for sequence analysis
US20130110407A1 (en) 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
US20180365375A1 (en) 2015-04-24 2018-12-20 University Of Utah Research Foundation Methods and systems for multiple taxonomic classification
WO2019022018A1 (ja) 2017-07-24 2019-01-31 国立研究開発法人農業・食品産業技術総合研究機構 多型検出法
US20190164627A1 (en) 2017-11-28 2019-05-30 Grail, Inc. Models for Targeted Sequencing

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016130578A1 (en) * 2015-02-09 2016-08-18 10X Genomics, Inc. Systems and methods for determining structural variation and phasing using variant call data

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040152108A1 (en) 2001-03-28 2004-08-05 Keith Jonathan Macgregor Method for sequence analysis
US20130110407A1 (en) 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
US20180365375A1 (en) 2015-04-24 2018-12-20 University Of Utah Research Foundation Methods and systems for multiple taxonomic classification
WO2019022018A1 (ja) 2017-07-24 2019-01-31 国立研究開発法人農業・食品産業技術総合研究機構 多型検出法
US20190164627A1 (en) 2017-11-28 2019-05-30 Grail, Inc. Models for Targeted Sequencing

Also Published As

Publication number Publication date
JP2022550013A (ja) 2022-11-30
CN114424288A (zh) 2022-04-29
AU2020358797A1 (en) 2022-04-14
BR112022005730A2 (pt) 2022-06-21
JP7636400B2 (ja) 2025-02-26
CA3155101A1 (en) 2021-04-08
US20230044570A1 (en) 2023-02-09
IL291709A (en) 2022-05-01
WO2021064365A1 (en) 2021-04-08
IL291709B1 (en) 2026-03-01
MX2022003605A (es) 2022-05-30
EP4042430A1 (en) 2022-08-17
KR20220070452A (ko) 2022-05-31
GB201914064D0 (en) 2019-11-13
NZ786015A (en) 2024-11-29

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