AU2014340239B2 - Method for improving the sensitivity of detection in determining copy number variations - Google Patents

Method for improving the sensitivity of detection in determining copy number variations Download PDF

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Publication number
AU2014340239B2
AU2014340239B2 AU2014340239A AU2014340239A AU2014340239B2 AU 2014340239 B2 AU2014340239 B2 AU 2014340239B2 AU 2014340239 A AU2014340239 A AU 2014340239A AU 2014340239 A AU2014340239 A AU 2014340239A AU 2014340239 B2 AU2014340239 B2 AU 2014340239B2
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chromosome
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AU2014340239A1 (en
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Diana ABDUEVA
Darya I. Chudova
Richard P. Rava
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Verinata Health Inc
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    • 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
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • 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
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems

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  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
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  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
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  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
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  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Databases & Information Systems (AREA)
  • Organic Chemistry (AREA)
  • Epidemiology (AREA)
  • Data Mining & Analysis (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Primary Health Care (AREA)
  • Evolutionary Computation (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
AU2014340239A 2013-10-21 2014-10-21 Method for improving the sensitivity of detection in determining copy number variations Ceased AU2014340239B2 (en)

Priority Applications (1)

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AU2020200728A AU2020200728C1 (en) 2013-10-21 2020-01-31 Method for improving the sensitivity of detection in determining copy number variations

Applications Claiming Priority (3)

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US201361893830P 2013-10-21 2013-10-21
US61/893,830 2013-10-21
PCT/US2014/061635 WO2015061359A1 (en) 2013-10-21 2014-10-21 Method for improving the sensitivity of detection in determining copy number variations

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AU2014340239B2 true AU2014340239B2 (en) 2019-11-28

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EP (2) EP4227947A1 (enExample)
JP (1) JP6534191B2 (enExample)
KR (2) KR102429186B1 (enExample)
CN (1) CN105830077B (enExample)
AU (2) AU2014340239B2 (enExample)
CA (1) CA2928185C (enExample)
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US11430541B2 (en) 2016-02-03 2022-08-30 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
US12217827B2 (en) 2014-05-30 2025-02-04 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies

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AU2020200728C1 (en) 2021-09-09
US20160239604A1 (en) 2016-08-18
AU2014340239A1 (en) 2016-05-12
EP4227947A1 (en) 2023-08-16
KR20160073405A (ko) 2016-06-24
CA2928185C (en) 2024-01-30
WO2015061359A1 (en) 2015-04-30
JP6534191B2 (ja) 2019-06-26
CA2928185A1 (en) 2015-04-30
KR102373647B1 (ko) 2022-03-11
IL245177A0 (en) 2016-06-30
KR102429186B1 (ko) 2022-08-03
JP2016539630A (ja) 2016-12-22
CN105830077B (zh) 2019-07-09
US10741269B2 (en) 2020-08-11
EP3061021A1 (en) 2016-08-31
AU2020200728B2 (en) 2021-05-27
EP3061021B1 (en) 2023-05-10
IL245177B (en) 2019-11-28
KR20220034929A (ko) 2022-03-18
AU2020200728A1 (en) 2020-02-20
BR112016008870A8 (pt) 2020-03-24
CN105830077A (zh) 2016-08-03

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