JP6623400B2 - 染色体異数性を測定するためのキット、装置及び方法 - Google Patents

染色体異数性を測定するためのキット、装置及び方法 Download PDF

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JP6623400B2
JP6623400B2 JP2018509952A JP2018509952A JP6623400B2 JP 6623400 B2 JP6623400 B2 JP 6623400B2 JP 2018509952 A JP2018509952 A JP 2018509952A JP 2018509952 A JP2018509952 A JP 2018509952A JP 6623400 B2 JP6623400 B2 JP 6623400B2
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JP2018514234A5 (enExample
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チョンジアン チェン
チョンジアン チェン
ジュンビン リアン
ジュンビン リアン
ザオリン シュアン
ザオリン シュアン
ダウェイ リ
ダウェイ リ
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Annoroad Gene Technology Beijing co ltd
Zhejiang Annoroad Bio Technology Co Ltd
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Zhejiang Annoroad Bio Technology Co Ltd
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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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Physiology (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)
JP2018509952A 2015-05-06 2015-05-06 染色体異数性を測定するためのキット、装置及び方法 Active JP6623400B2 (ja)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2015/078422 WO2016176847A1 (zh) 2015-05-06 2015-05-06 检测染色体非整倍性的试剂盒、装置和方法

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JP2018514234A JP2018514234A (ja) 2018-06-07
JP2018514234A5 JP2018514234A5 (enExample) 2019-10-17
JP6623400B2 true JP6623400B2 (ja) 2019-12-25

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US (1) US20180201990A1 (enExample)
EP (1) EP3293270B1 (enExample)
JP (1) JP6623400B2 (enExample)
SG (1) SG11201709141YA (enExample)
WO (1) WO2016176847A1 (enExample)

Families Citing this family (9)

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US20180190384A1 (en) * 2017-01-05 2018-07-05 Clear Genetics, Inc. Automated genetic test counseling
CN112397148B (zh) * 2019-08-23 2023-10-03 武汉希望组生物科技有限公司 序列比对方法、序列校正方法及其装置
KR20220097894A (ko) * 2019-10-16 2022-07-08 스틸라 테크놀로지스 핵산 서열 농도의 측정
CN110993024B (zh) * 2019-12-20 2023-08-22 北京科迅生物技术有限公司 建立胎儿浓度校正模型的方法及装置与胎儿浓度定量的方法及装置
CN112037846A (zh) * 2020-07-14 2020-12-04 广州市达瑞生物技术股份有限公司 一种cffDNA非整倍体检测方法、系统、储存介质以及检测设备
CN114171118B (zh) * 2021-11-15 2024-09-27 成都凡迪医疗器械有限公司 用于无创基因检测的数据处理方法和装置
CN114792548B (zh) * 2022-06-14 2022-09-09 北京贝瑞和康生物技术有限公司 校正测序数据、检测拷贝数变异的方法、设备和介质
CN115132271B (zh) * 2022-09-01 2023-07-04 北京中仪康卫医疗器械有限公司 一种基于批次内校正的cnv检测方法
CN117095747B (zh) * 2023-08-29 2024-04-30 广东省农业科学院水稻研究所 一种基于线性泛基因组和人工智能模型检测群体倒位或转座子端点基因型的方法

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WO2012141712A1 (en) * 2011-04-14 2012-10-18 Verinata Health, Inc. Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
CN104603284B (zh) * 2012-09-12 2016-08-24 深圳华大基因研究院 利用基因组测序片段检测拷贝数变异的方法
US10482994B2 (en) * 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
CN104789466B (zh) * 2015-05-06 2018-03-13 安诺优达基因科技(北京)有限公司 检测染色体非整倍性的试剂盒和装置

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Publication number Publication date
SG11201709141YA (en) 2017-12-28
US20180201990A1 (en) 2018-07-19
EP3293270A1 (en) 2018-03-14
EP3293270A4 (en) 2018-03-28
JP2018514234A (ja) 2018-06-07
EP3293270B1 (en) 2019-09-25
WO2016176847A1 (zh) 2016-11-10

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