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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Publication of CA2964158A1 publication Critical patent/CA2964158A1/en
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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive 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)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Biochemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (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

Family

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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)

Country Link
US (3) US10892035B2 (enExample)
EP (2) EP3204512B1 (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
US20210272650A1 (en) 2021-09-02
EP3204512A1 (en) 2017-08-16
EP3204512B1 (en) 2020-05-06
US20250239328A1 (en) 2025-07-24
JP6971845B2 (ja) 2021-11-24
AU2015330734B2 (en) 2021-10-28
JP2023022220A (ja) 2023-02-14
AU2024205243A1 (en) 2024-08-22
JP2021035387A (ja) 2021-03-04
US10892035B2 (en) 2021-01-12
WO2016057901A1 (en) 2016-04-14
EP3730629A1 (en) 2020-10-28
AU2021282416B2 (en) 2024-05-09
US20170316150A1 (en) 2017-11-02
AU2021282416A1 (en) 2021-12-23
JP2018500876A (ja) 2018-01-18
JP7773301B2 (ja) 2025-11-19
AU2015330734A1 (en) 2017-04-20

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