JP2018502602A - 相同性の高い領域において遺伝子型を決定する方法 - Google Patents

相同性の高い領域において遺伝子型を決定する方法 Download PDF

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JP2018502602A
JP2018502602A JP2017553050A JP2017553050A JP2018502602A JP 2018502602 A JP2018502602 A JP 2018502602A JP 2017553050 A JP2017553050 A JP 2017553050A JP 2017553050 A JP2017553050 A JP 2017553050A JP 2018502602 A JP2018502602 A JP 2018502602A
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マジー，デール・エドワード
ロバートソン，アレクサンダー・デ・ジョン
エヴァンス，エリック・アンドリュー
マグワイア，ジャレッド・ロバート
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カウンシル，インコーポレーテッド
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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
    • C12Q1/6869—Methods for 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
    • 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
    • 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
    • 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
    • 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)
  • 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)
JP2017553050A 2014-12-29 2015-12-28 相同性の高い領域において遺伝子型を決定する方法 Withdrawn JP2018502602A (ja)

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 (2)

Publication Number Publication Date
JP2018502602A true JP2018502602A (ja) 2018-02-01
JP2018502602A5 JP2018502602A5 (https=) 2018-09-06

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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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JP2022534071A (ja) * 2019-05-22 2022-07-27 ソウル ナショナル ユニバーシティ アールアンドディービー ファウンデーション Ｎｇｓデータを用いて遺伝型を予測する方法及び装置

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US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
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
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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
CN106407745A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 皮肤对应的基因的突变位点的获取方法及装置
CN106407746A (zh) * 2016-11-04 2017-02-15 成都鑫云解码科技有限公司 呼吸系统对应的基因的突变位点的获取方法及装置
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
CN106503489A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 心血管系统对应的基因的突变位点的获取方法及装置
CN106503488A (zh) * 2016-11-04 2017-03-15 成都鑫云解码科技有限公司 消化系统对应的基因的突变位点的获取方法及装置
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CN108251517A (zh) * 2017-12-29 2018-07-06 武汉艾德士生物科技有限公司 一种分析体系内相似序列相对数量的方法
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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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CN113724791B (zh) * 2021-09-09 2024-03-12 天津华大医学检验所有限公司 Cyp21a2基因ngs数据分析的方法、装置及应用
CN113564247B (zh) * 2021-09-24 2022-01-28 北京贝瑞和康生物技术有限公司 同时检测先天性肾上腺皮质增生症相关9个基因多种突变的引物组和试剂盒
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JP2022534071A (ja) * 2019-05-22 2022-07-27 ソウル ナショナル ユニバーシティ アールアンドディービー ファウンデーション Ｎｇｓデータを用いて遺伝型を予測する方法及び装置

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HK1243204A1 (zh) 2018-07-06
US20210012859A1 (en) 2021-01-14
CA2970345A1 (en) 2016-07-07
EP3289502A1 (en) 2018-03-07
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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