CA2933343A1 - Compositions and methods for detecting rare sequence variants - Google Patents

Compositions and methods for detecting rare sequence variants Download PDF

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Publication number
CA2933343A1
CA2933343A1 CA2933343A CA2933343A CA2933343A1 CA 2933343 A1 CA2933343 A1 CA 2933343A1 CA 2933343 A CA2933343 A CA 2933343A CA 2933343 A CA2933343 A CA 2933343A CA 2933343 A1 CA2933343 A1 CA 2933343A1
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Prior art keywords
sequence
polynucleotides
primer
amplification
cftr
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CA2933343A
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English (en)
French (fr)
Inventor
Shengrong LIN
Zhaohui Sun
Grace Qizhi ZHAO
Paul Ling-Fung TANG
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Accuragen Holdings Ltd
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Accuragen Inc
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    • 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
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
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    • 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
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    • 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
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    • C12Q2521/00—Reaction characterised by the enzymatic activity
    • C12Q2521/50—Other enzymatic activities
    • C12Q2521/501—Ligase
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/191—Modifications characterised by incorporating an adaptor
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    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/30—Oligonucleotides characterised by their secondary structure
    • C12Q2525/307—Circular oligonucleotides
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    • C12Q2527/00—Reactions demanding special reaction conditions
    • C12Q2527/101—Temperature
    • C—CHEMISTRY; METALLURGY
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    • C12Q2531/00—Reactions of nucleic acids characterised by
    • C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
    • C12Q2531/113—PCR
    • C—CHEMISTRY; METALLURGY
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    • C12Q2531/00—Reactions of nucleic acids characterised by
    • C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
    • C12Q2531/125—Rolling circle
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    • C12Q2531/00—Reactions of nucleic acids characterised by
    • C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
    • C12Q2531/131—Inverse PCR
    • 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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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
CA2933343A 2013-12-11 2014-12-11 Compositions and methods for detecting rare sequence variants Pending CA2933343A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US201361914907P 2013-12-11 2013-12-11
US61/914,907 2013-12-11
US201461987414P 2014-05-01 2014-05-01
US61/987,414 2014-05-01
US201462010975P 2014-06-11 2014-06-11
US62/010,975 2014-06-11
PCT/US2014/069848 WO2015089333A1 (en) 2013-12-11 2014-12-11 Compositions and methods for detecting rare sequence variants

Publications (1)

Publication Number Publication Date
CA2933343A1 true CA2933343A1 (en) 2015-06-18

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CA2933343A Pending CA2933343A1 (en) 2013-12-11 2014-12-11 Compositions and methods for detecting rare sequence variants

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US (4) US10767222B2 (enExample)
EP (2) EP3495506B1 (enExample)
JP (1) JP6435334B2 (enExample)
KR (3) KR102640585B1 (enExample)
CN (2) CN104946737B (enExample)
AU (3) AU2014362227B2 (enExample)
CA (1) CA2933343A1 (enExample)
ES (2) ES2707744T3 (enExample)
IL (3) IL274464B2 (enExample)
MX (1) MX376900B (enExample)
SG (2) SG11201604737VA (enExample)
WO (1) WO2015089333A1 (enExample)

Cited By (2)

* Cited by examiner, † Cited by third party
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WO2017037657A1 (en) * 2015-09-02 2017-03-09 Robert Osborne Method of identifying sequence variants using concatenation
CN110872632A (zh) * 2018-08-30 2020-03-10 深圳华大生命科学研究院 咽颊炎链球菌的特异基因序列、其检测引物及其应用

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KR102379877B1 (ko) 2022-03-30
KR20160106596A (ko) 2016-09-12
KR20240025725A (ko) 2024-02-27
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US20230416819A1 (en) 2023-12-28
US10767222B2 (en) 2020-09-08
EP3080298A1 (en) 2016-10-19
HK1214843A1 (zh) 2016-08-05
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AU2024201195A1 (en) 2024-03-14
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US20250290136A1 (en) 2025-09-18
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US11597973B2 (en) 2023-03-07
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ES2707744T3 (es) 2019-04-04
IL246021A0 (en) 2016-07-31
SG11201604737VA (en) 2016-07-28
ES2960338T3 (es) 2024-03-04
KR20220064973A (ko) 2022-05-19
AU2021206868B2 (en) 2023-12-21
EP3495506A1 (en) 2019-06-12
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