CA2964158A1 - Methods and processes for non-invasive assessment of genetic variations - Google Patents

Methods and processes for non-invasive assessment of genetic variations Download PDF

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Publication number
CA2964158A1
CA2964158A1 CA2964158A CA2964158A CA2964158A1 CA 2964158 A1 CA2964158 A1 CA 2964158A1 CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A1 CA2964158 A1 CA 2964158A1
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Canada
Prior art keywords
portions
chromosome
genomic region
determining
nucleotide sequence
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CA2964158A
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English (en)
French (fr)
Inventor
Cosmin Deciu
Chen Zhao
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Sequenom Inc
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Sequenom Inc
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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
    • 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
    • G16B30/10—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
    • 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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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
CA2964158A 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations Pending CA2964158A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462062748P 2014-10-10 2014-10-10
US62/062,748 2014-10-10
PCT/US2015/054903 WO2016057901A1 (en) 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations

Publications (1)

Publication Number Publication Date
CA2964158A1 true CA2964158A1 (en) 2016-04-14

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Family Applications (1)

Application Number Title Priority Date Filing Date
CA2964158A Pending CA2964158A1 (en) 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations

Country Status (6)

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US (3) US10892035B2 (enExample)
EP (2) EP3730629A1 (enExample)
JP (3) JP6971845B2 (enExample)
AU (3) AU2015330734B2 (enExample)
CA (1) CA2964158A1 (enExample)
WO (1) WO2016057901A1 (enExample)

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Also Published As

Publication number Publication date
US10892035B2 (en) 2021-01-12
AU2015330734B2 (en) 2021-10-28
EP3204512B1 (en) 2020-05-06
JP2018500876A (ja) 2018-01-18
EP3204512A1 (en) 2017-08-16
JP2021035387A (ja) 2021-03-04
US20210272650A1 (en) 2021-09-02
AU2021282416B2 (en) 2024-05-09
JP2023022220A (ja) 2023-02-14
AU2021282416A1 (en) 2021-12-23
AU2015330734A1 (en) 2017-04-20
WO2016057901A1 (en) 2016-04-14
JP6971845B2 (ja) 2021-11-24
US20170316150A1 (en) 2017-11-02
US20250239328A1 (en) 2025-07-24
JP7773301B2 (ja) 2025-11-19
EP3730629A1 (en) 2020-10-28
AU2024205243A1 (en) 2024-08-22

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