HK1243204A1 - 用於确定高同源性区域中的基因型的方法 - Google Patents

用於确定高同源性区域中的基因型的方法 Download PDF

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Publication number
HK1243204A1
HK1243204A1 HK18102609.9A HK18102609A HK1243204A1 HK 1243204 A1 HK1243204 A1 HK 1243204A1 HK 18102609 A HK18102609 A HK 18102609A HK 1243204 A1 HK1243204 A1 HK 1243204A1
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gene
pseudogene
genes
copy number
reads
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HK18102609.9A
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Chinese (zh)
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Dale Edward Muzzey
Alexander De Jong Robertson
Eric Andrew Evans
Jared Robert Maguire
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考希尔股份有限公司
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    • 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
    • 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
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
HK18102609.9A 2014-12-29 2015-12-28 用於确定高同源性区域中的基因型的方法 HK1243204A1 (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201462097139P 2014-12-29 2014-12-29
US62/097,139 2014-12-29
US201562234012P 2015-09-28 2015-09-28
US62/234,012 2015-09-28
PCT/US2015/067547 WO2016109364A1 (en) 2014-12-29 2015-12-28 Method for determining genotypes in regions of high homology

Publications (1)

Publication Number Publication Date
HK1243204A1 true HK1243204A1 (zh) 2018-07-06

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US (2) US20160188793A1 (https=)
EP (1) EP3289502A4 (https=)
JP (1) JP2018502602A (https=)
CN (1) CN107111693A (https=)
AU (1) AU2015374344A1 (https=)
CA (1) CA2970345A1 (https=)
HK (1) HK1243204A1 (https=)
IL (1) IL252793A0 (https=)
WO (1) WO2016109364A1 (https=)

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US11408024B2 (en) * 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences
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CN106407748A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 内分泌与代谢系统对应的基因突变位点的获取方法及装置
CN106503490A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 泌尿与生殖系统对应的基因的突变位点的获取方法及装置
CN106529209A (zh) * 2016-11-04 2017-03-22 成都鑫云解码科技有限公司 免疫系统对应的基因的突变位点的获取方法及装置
CN106407747A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 肿瘤对应的基因的突变位点的获取方法及装置
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CN106407744A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 饮食与健康对应的基因的突变位点的获取方法及装置
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CN110699436B (zh) * 2018-07-10 2023-07-21 天津华大医学检验所有限公司 确定待测样本的smn1基因是否存在七号外显子缺失的方法和系统
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Publication number Publication date
US20210012859A1 (en) 2021-01-14
CA2970345A1 (en) 2016-07-07
EP3289502A1 (en) 2018-03-07
JP2018502602A (ja) 2018-02-01
CN107111693A (zh) 2017-08-29
EP3289502A4 (en) 2018-09-12
US20160188793A1 (en) 2016-06-30
IL252793A0 (en) 2017-08-31
WO2016109364A1 (en) 2016-07-07
AU2015374344A1 (en) 2017-07-06

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