AU2020358797A1 - Method for determining a measure correlated to the probability that two mutated sequence reads derive from the same sequence comprising mutations - Google Patents

Method for determining a measure correlated to the probability that two mutated sequence reads derive from the same sequence comprising mutations Download PDF

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Publication number
AU2020358797A1
AU2020358797A1 AU2020358797A AU2020358797A AU2020358797A1 AU 2020358797 A1 AU2020358797 A1 AU 2020358797A1 AU 2020358797 A AU2020358797 A AU 2020358797A AU 2020358797 A AU2020358797 A AU 2020358797A AU 2020358797 A1 AU2020358797 A1 AU 2020358797A1
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Prior art keywords
mutated
mutations
mutated sequence
mers
sequence
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AU2020358797A
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English (en)
Inventor
Aaron Earl DARLING
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Illumina Singapore Pte Ltd
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Illumina Singapore Pte Ltd
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Publication of AU2020358797A1 publication Critical patent/AU2020358797A1/en
Assigned to ILLUMINA SINGAPORE PTE. LTD. reassignment ILLUMINA SINGAPORE PTE. LTD. Request for Assignment Assignors: Longas Technologies Pty Ltd
Pending legal-status Critical Current

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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)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Software Systems (AREA)
  • Databases & Information Systems (AREA)
  • 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)
AU2020358797A 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 Pending AU2020358797A1 (en)

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 (1)

Publication Number Publication Date
AU2020358797A1 true AU2020358797A1 (en) 2022-04-14

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Family Applications (1)

Application Number Title Priority Date Filing Date
AU2020358797A Pending AU2020358797A1 (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

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

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
WO2016130578A1 (en) * 2015-02-09 2016-08-18 10X Genomics, Inc. Systems and methods for determining structural variation and phasing using variant call data
CA2977548A1 (en) * 2015-04-24 2016-10-27 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
JP2021503922A (ja) * 2017-11-28 2021-02-15 グレイル， インコーポレイテッドＧｒａｉｌ， Ｉｎｃ． ターゲットシーケンシングのためのモデル

Also Published As

Publication number Publication date
JP2022550013A (ja) 2022-11-30
CN114424288A (zh) 2022-04-29
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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