AU2013277997B2 - 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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AU2013277997B2
AU2013277997B2 AU2013277997A AU2013277997A AU2013277997B2 AU 2013277997 B2 AU2013277997 B2 AU 2013277997B2 AU 2013277997 A AU2013277997 A AU 2013277997A AU 2013277997 A AU2013277997 A AU 2013277997A AU 2013277997 B2 AU2013277997 B2 AU 2013277997B2
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chry
counts
nucleic acid
reference genome
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AU2013277997A1 (en
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Cosmin Deciu
Zeljko Dzakula
Amin R. MAZLOOM
Huiquan Wang
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Sequenom Inc
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Priority to AU2023201052A priority patent/AU2023201052B2/en
Priority to AU2025271524A priority patent/AU2025271524A1/en
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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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
AU2013277997A 2012-06-22 2013-06-21 Methods and processes for non-invasive assessment of genetic variations Active AU2013277997B2 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
AU2018217243A AU2018217243B2 (en) 2012-06-22 2018-08-14 Methods and processes for non-invasive assessment of genetic variations
AU2020277215A AU2020277215B2 (en) 2012-06-22 2020-11-26 Methods and processes for non-invasive assessment of genetic variations
AU2023201052A AU2023201052B2 (en) 2012-06-22 2023-02-23 Methods and processes for non-invasive assessment of genetic variations
AU2025271524A AU2025271524A1 (en) 2012-06-22 2025-11-28 Methods and processes for non-invasive assessment of genetic variations

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201261663482P 2012-06-22 2012-06-22
US61/663,482 2012-06-22
US13/797,508 2013-03-12
US13/797,508 US10497461B2 (en) 2012-06-22 2013-03-12 Methods and processes for non-invasive assessment of genetic variations
PCT/US2013/047131 WO2013192562A1 (en) 2012-06-22 2013-06-21 Methods and processes for non-invasive assessment of genetic variations

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AU2013277997A1 AU2013277997A1 (en) 2015-01-22
AU2013277997B2 true AU2013277997B2 (en) 2018-05-17

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AU2018217243A Active AU2018217243B2 (en) 2012-06-22 2018-08-14 Methods and processes for non-invasive assessment of genetic variations
AU2020277215A Active AU2020277215B2 (en) 2012-06-22 2020-11-26 Methods and processes for non-invasive assessment of genetic variations
AU2023201052A Active AU2023201052B2 (en) 2012-06-22 2023-02-23 Methods and processes for non-invasive assessment of genetic variations
AU2025271524A Pending AU2025271524A1 (en) 2012-06-22 2025-11-28 Methods and processes for non-invasive assessment of genetic variations

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AU2020277215A Active AU2020277215B2 (en) 2012-06-22 2020-11-26 Methods and processes for non-invasive assessment of genetic variations
AU2023201052A Active AU2023201052B2 (en) 2012-06-22 2023-02-23 Methods and processes for non-invasive assessment of genetic variations
AU2025271524A Pending AU2025271524A1 (en) 2012-06-22 2025-11-28 Methods and processes for non-invasive assessment of genetic variations

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US (2) US10497461B2 (enExample)
EP (4) EP3473731B1 (enExample)
JP (2) JP6318151B2 (enExample)
AU (5) AU2013277997B2 (enExample)
CA (1) CA2877331C (enExample)
WO (1) WO2013192562A1 (enExample)

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