MX376900B - Composiciones y metodos para detectar variantes poco frecuentes de una secuencia. - Google Patents

Composiciones y metodos para detectar variantes poco frecuentes de una secuencia.

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Publication number
MX376900B
MX376900B MX2016007605A MX2016007605A MX376900B MX 376900 B MX376900 B MX 376900B MX 2016007605 A MX2016007605 A MX 2016007605A MX 2016007605 A MX2016007605 A MX 2016007605A MX 376900 B MX376900 B MX 376900B
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Mexico
Prior art keywords
sequence
methods
compositions
rare variants
detecting rare
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MX2016007605A
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English (en)
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MX2016007605A (es
Inventor
Grace Qizhi Zhao
Paul Ling- Fung Tang
Shengrong Lin
Zhaohui Sun
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Accuragen Holdings Ltd
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Application filed by Accuragen Holdings Ltd filed Critical Accuragen Holdings Ltd
Publication of MX2016007605A publication Critical patent/MX2016007605A/es
Publication of MX376900B publication Critical patent/MX376900B/es

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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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    • 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
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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
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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
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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
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    • 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)
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  • 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)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

En la presente invención se refiere a un método para identificar una variante de secuencia en una muestra de ácido nucleico que comprende una pluralidad de polinucleótidos libres de células, cada polinucleótido libre de células de la pluralidad tiene un extremo 5¨y un extremo 3´, el método caracterizado porque comprende: (a) circularizar polinucléotidos individuales libres de células de dicha pluralidad para formar una pluralidad de polinucleótidos circulares, cada uno de los cuales tiene una unión entre el extremo 5´ y el extremo 3´; (b) amplificar los polinucleótidos circulares de (a); (c) secuenciar los polinucleótidos amplificados para producir una pluralidad de lecturas de secuencia entre las lecturas de secuenciación y una secuencia de referencia; y ( e) llamar una diferencia en la secuencia como la variante de secuencia únicamente cuando la diferencia en la secuencia se produce en al menos dos polinucleótidos circulares que tienen diferentes uniones.
MX2016007605A 2013-12-11 2014-12-11 Composiciones y metodos para detectar variantes poco frecuentes de una secuencia. MX376900B (es)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201361914907P 2013-12-11 2013-12-11
US201461987414P 2014-05-01 2014-05-01
US201462010975P 2014-06-11 2014-06-11
PCT/US2014/069848 WO2015089333A1 (en) 2013-12-11 2014-12-11 Compositions and methods for detecting rare sequence variants

Publications (2)

Publication Number Publication Date
MX2016007605A MX2016007605A (es) 2017-01-13
MX376900B true MX376900B (es) 2025-03-04

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MX2016007605A MX376900B (es) 2013-12-11 2014-12-11 Composiciones y metodos para detectar variantes poco frecuentes de una secuencia.

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US (4) US10767222B2 (es)
EP (2) EP3080298B1 (es)
JP (1) JP6435334B2 (es)
KR (3) KR102640585B1 (es)
CN (2) CN109706222A (es)
AU (3) AU2014362227B2 (es)
CA (1) CA2933343A1 (es)
ES (2) ES2707744T3 (es)
IL (3) IL274464B2 (es)
MX (1) MX376900B (es)
SG (2) SG10201807532SA (es)
WO (1) WO2015089333A1 (es)

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HK1214843A1 (zh) 2016-08-05
US12234512B2 (en) 2025-02-25
KR102640585B1 (ko) 2024-02-23
IL274464B1 (en) 2023-04-01
CN109706222A (zh) 2019-05-03
EP3495506B1 (en) 2023-07-12
US20210054449A1 (en) 2021-02-25
WO2015089333A1 (en) 2015-06-18
KR20240025725A (ko) 2024-02-27
IL274464B2 (en) 2023-08-01
EP3080298B1 (en) 2018-10-31
US20160304954A1 (en) 2016-10-20
IL300974A (en) 2023-04-01
ES2960338T3 (es) 2024-03-04
MX2016007605A (es) 2017-01-13
AU2024201195A1 (en) 2024-03-14
ES2707744T3 (es) 2019-04-04
AU2014362227A1 (en) 2016-06-23
US20250290136A1 (en) 2025-09-18
KR102379877B1 (ko) 2022-03-30
JP2017510244A (ja) 2017-04-13
CN104946737A (zh) 2015-09-30
EP3080298A4 (en) 2017-07-05
AU2021206868B2 (en) 2023-12-21
EP3080298A1 (en) 2016-10-19
US10767222B2 (en) 2020-09-08
US20230416819A1 (en) 2023-12-28
IL246021A0 (en) 2016-07-31
CA2933343A1 (en) 2015-06-18
SG10201807532SA (en) 2018-09-27

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