CA2948939C - Noninvasive detection of fetal genetic abnormality - Google Patents

Noninvasive detection of fetal genetic abnormality Download PDF

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Publication number
CA2948939C
CA2948939C CA2948939A CA2948939A CA2948939C CA 2948939 C CA2948939 C CA 2948939C CA 2948939 A CA2948939 A CA 2948939A CA 2948939 A CA2948939 A CA 2948939A CA 2948939 C CA2948939 C CA 2948939C
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chromosome
coverage depth
content
fetal
calculated
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French (fr)
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CA2948939A1 (en
Inventor
Fuman Jiang
Huifei Chen
Xianghua Chai
Yuying Yuan
Xiuqing Zhang
Fang Chen
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BGI Genomics Co Ltd
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BGI Diagnosis Co Ltd
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First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=47392194&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=CA2948939(C) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by BGI Diagnosis Co Ltd filed Critical BGI Diagnosis Co Ltd
Priority to CA2948939A priority Critical patent/CA2948939C/en
Publication of CA2948939A1 publication Critical patent/CA2948939A1/en
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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
    • C12Q1/6844—Nucleic acid amplification reactions
    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2948939A 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality Active CA2948939C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2948939A CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
CA2948939A CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
PCT/CN2011/001070 WO2013000100A1 (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
CA2791118A CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2791118A Division CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Publications (2)

Publication Number Publication Date
CA2948939A1 CA2948939A1 (en) 2012-12-29
CA2948939C true CA2948939C (en) 2021-02-02

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CA2948939A Active CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
CA2791118A Active CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Family Applications After (1)

Application Number Title Priority Date Filing Date
CA2791118A Active CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

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US (1) US9547748B2 (enExample)
EP (1) EP2561103B1 (enExample)
JP (1) JP5659319B2 (enExample)
KR (1) KR101489568B1 (enExample)
CN (1) CN103403183B (enExample)
AU (1) AU2012261664B2 (enExample)
BR (1) BR112012033760B1 (enExample)
CA (2) CA2948939C (enExample)
DK (1) DK2561103T3 (enExample)
ES (1) ES2512448T3 (enExample)
MY (1) MY172864A (enExample)
PL (1) PL2561103T3 (enExample)
RU (1) RU2589681C2 (enExample)
SG (1) SG191757A1 (enExample)
SI (1) SI2561103T1 (enExample)
WO (1) WO2013000100A1 (enExample)
ZA (1) ZA201209583B (enExample)

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CN103403183B (zh) 2011-06-29 2014-10-15 深圳华大基因医学有限公司 胎儿遗传异常的无创性检测

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