CN114424288A - 用于确定与两个突变的序列读段衍生自包含突变的相同序列的概率相关的量度的方法 - Google Patents

用于确定与两个突变的序列读段衍生自包含突变的相同序列的概率相关的量度的方法 Download PDF

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CN114424288A
CN114424288A CN202080065982.6A CN202080065982A CN114424288A CN 114424288 A CN114424288 A CN 114424288A CN 202080065982 A CN202080065982 A CN 202080065982A CN 114424288 A CN114424288 A CN 114424288A
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mutated
mutated sequence
sequence reads
sequence
mutation
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艾伦·厄尔·达尔林
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Illumina Singapore Pte Ltd
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Langs Technology Co ltd
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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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  • Proteomics, Peptides & Aminoacids (AREA)
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CN202080065982.6A 2019-09-30 2020-09-29 用于确定与两个突变的序列读段衍生自包含突变的相同序列的概率相关的量度的方法 Pending CN114424288A (zh)

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

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CN114424288A true CN114424288A (zh) 2022-04-29

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CN202080065982.6A Pending CN114424288A (zh) 2019-09-30 2020-09-29 用于确定与两个突变的序列读段衍生自包含突变的相同序列的概率相关的量度的方法

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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=)

Cited By (1)

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CN115662523A (zh) * 2022-10-21 2023-01-31 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

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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

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CN107208156A (zh) * 2015-02-09 2017-09-26 10X基因组学有限公司 用于使用变异识别数据来确定结构变异和定相的系统和方法
CN107532332A (zh) * 2015-04-24 2018-01-02 犹他大学研究基金会 用于多重分类学分类的方法和系统
WO2019108555A1 (en) * 2017-11-28 2019-06-06 Crail, Inc. Models for targeted sequencing

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WO2002079502A1 (en) * 2001-03-28 2002-10-10 The University Of Queensland A method for nucleic acid sequence analysis
WO2013040583A2 (en) * 2011-09-16 2013-03-21 Complete Genomics, Inc Determining variants in a genome of a heterogeneous sample
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

Patent Citations (3)

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Publication number Priority date Publication date Assignee Title
CN107208156A (zh) * 2015-02-09 2017-09-26 10X基因组学有限公司 用于使用变异识别数据来确定结构变异和定相的系统和方法
CN107532332A (zh) * 2015-04-24 2018-01-02 犹他大学研究基金会 用于多重分类学分类的方法和系统
WO2019108555A1 (en) * 2017-11-28 2019-06-06 Crail, Inc. Models for targeted sequencing

Non-Patent Citations (2)

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Title
DAN LEVY: "Facilitated sequence counting and assembly by template mutagenesis", PNAS, 13 October 2014 (2014-10-13), pages 4632 *
YUANSHENG LIU: "Index suffix–prefix overlaps by (w, k)-minimizer to generate long contigs for reads compression", BIOINFORMATICS, vol. 35, no. 12, 30 June 2019 (2019-06-30), pages 2066 - 2074 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115662523A (zh) * 2022-10-21 2023-01-31 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
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

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Publication number Publication date
JP2022550013A (ja) 2022-11-30
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
KR102903933B1 (ko) 2025-12-23
KR20220070452A (ko) 2022-05-31
GB201914064D0 (en) 2019-11-13
NZ786015A (en) 2024-11-29

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