ES3026544T3 - Size-based genomic analysis for prenatal diagnosis - Google Patents

Size-based genomic analysis for prenatal diagnosis Download PDF

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Publication number
ES3026544T3
ES3026544T3 ES23160186T ES23160186T ES3026544T3 ES 3026544 T3 ES3026544 T3 ES 3026544T3 ES 23160186 T ES23160186 T ES 23160186T ES 23160186 T ES23160186 T ES 23160186T ES 3026544 T3 ES3026544 T3 ES 3026544T3
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chromosome
size
nucleic acid
fragments
classification
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Spanish (es)
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Yuk Ming Dennis Lo
Kwan Chee Chan
Wenli Zheng
Wai Kwun Rossa Chiu
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Chinese University of Hong Kong CUHK
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Chinese University of Hong Kong CUHK
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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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential 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
    • 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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
ES23160186T 2009-11-06 2010-11-05 Size-based genomic analysis for prenatal diagnosis Active ES3026544T3 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US25907609P 2009-11-06 2009-11-06
US36039910P 2010-06-30 2010-06-30

Publications (1)

Publication Number Publication Date
ES3026544T3 true ES3026544T3 (en) 2025-06-11

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ES23160186T Active ES3026544T3 (en) 2009-11-06 2010-11-05 Size-based genomic analysis for prenatal diagnosis

Country Status (12)

Country Link
US (4) US8620593B2 (https=)
EP (3) EP3406737B1 (https=)
JP (2) JP5770737B2 (https=)
CN (2) CN107312844B (https=)
AU (1) AU2010317019B2 (https=)
CA (1) CA2780016C (https=)
EA (1) EA034241B1 (https=)
ES (1) ES3026544T3 (https=)
IL (1) IL219545A (https=)
MX (2) MX357692B (https=)
TW (1) TWI445854B (https=)
WO (1) WO2011054936A1 (https=)

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Also Published As

Publication number Publication date
CN107312844A (zh) 2017-11-03
EP2496713B1 (en) 2018-07-18
EP4212630C0 (en) 2025-05-07
TWI445854B (zh) 2014-07-21
WO2011054936A1 (en) 2011-05-12
US20220282332A1 (en) 2022-09-08
EP3406737A1 (en) 2018-11-28
JP5770737B2 (ja) 2015-08-26
CA2780016C (en) 2017-09-19
EP3406737B1 (en) 2023-05-31
JP2013509870A (ja) 2013-03-21
CN107312844B (zh) 2021-01-22
EP2496713A1 (en) 2012-09-12
CA2780016A1 (en) 2011-05-12
AU2010317019B2 (en) 2014-10-30
AU2010317019A1 (en) 2012-05-31
EP4212630B1 (en) 2025-05-07
BR112012010708A2 (pt) 2016-03-29
US11365448B2 (en) 2022-06-21
MX357692B (es) 2018-07-19
US8620593B2 (en) 2013-12-31
IL219545A0 (en) 2012-06-28
CN102791881A (zh) 2012-11-21
JP6001721B2 (ja) 2016-10-05
CN102791881B (zh) 2017-08-08
EA201200701A1 (ru) 2012-12-28
US20180237858A1 (en) 2018-08-23
US20140080720A1 (en) 2014-03-20
JP2015165805A (ja) 2015-09-24
MX2012005217A (es) 2012-07-23
IL219545A (en) 2015-02-26
TW201129736A (en) 2011-09-01
US20110276277A1 (en) 2011-11-10
EP4212630A1 (en) 2023-07-19
US9982300B2 (en) 2018-05-29
EA034241B1 (ru) 2020-01-21

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