CN114945685A - 确定胎儿核酸浓度的方法以及胎儿基因分型方法 - Google Patents

确定胎儿核酸浓度的方法以及胎儿基因分型方法 Download PDF

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CN114945685A
CN114945685A CN202080093338.XA CN202080093338A CN114945685A CN 114945685 A CN114945685 A CN 114945685A CN 202080093338 A CN202080093338 A CN 202080093338A CN 114945685 A CN114945685 A CN 114945685A
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fetal
genotype
nucleic acid
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陈若言
高雅
徐金金
苏凤侠
林煜
金鑫
陈芳
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BGI Shenzhen Co Ltd
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    • 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
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    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
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    • 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
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • 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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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

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  • Physics & Mathematics (AREA)
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Abstract

本发明提供了确定胎儿核酸浓度的方法以及胎儿基因分型方法。根据本发明的实施例，确定胎儿游离核酸浓度的方法包括：(1)获取孕妇第一核酸样本的测序数据和参考基因组序列，所述孕妇第一核酸样本含有胎儿游离核酸，所述测序数据由多个测序读段构成；(2)在所述参考基因组序列上选择预定区域，并基于所述孕妇第一核酸样本的测序数据，确定所述预定区域内的突变信息；和(3)基于所述预定区域内的所述突变信息，确定与所述预定区域对应的胎儿游离核酸浓度。

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PCT国内申请，说明书已公开。

Claims (45)

  1. PCT国内申请，权利要求书已公开。
CN202080093338.XA 2020-01-17 2020-01-17 确定胎儿核酸浓度的方法以及胎儿基因分型方法 Pending CN114945685A (zh)

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CN113969310A (zh) * 2021-10-14 2022-01-25 武汉蓝沙医学检验实验室有限公司 胎儿dna浓度的评估方法及应用

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CN113999900B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 以孕妇游离dna评估胎儿dna浓度的方法及应用

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US10081839B2 (en) * 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
WO2015164432A1 (en) * 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
KR20160010277A (ko) * 2014-07-18 2016-01-27 에스케이텔레콤 주식회사 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법
CN104232777B (zh) * 2014-09-19 2016-08-24 天津华大基因科技有限公司 同时确定胎儿核酸含量和染色体非整倍性的方法及装置
CN107109324B (zh) * 2015-01-16 2019-11-08 深圳华大基因股份有限公司 确定胎儿核酸含量的方法和装置
US11111538B2 (en) * 2015-05-22 2021-09-07 Nipd Genetics Public Company Ltd Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
CN109971846A (zh) * 2018-11-29 2019-07-05 时代基因检测中心有限公司 使用双等位基因snp靶向下一代测序的非侵入性产前测定非整倍体的方法

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113969310A (zh) * 2021-10-14 2022-01-25 武汉蓝沙医学检验实验室有限公司 胎儿dna浓度的评估方法及应用
CN113969310B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 胎儿dna浓度的评估方法及应用

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WO2021142794A1 (zh) 2021-07-22
US20220367003A1 (en) 2022-11-17
WO2021142794A9 (zh) 2021-09-16
EP4092130A4 (en) 2023-09-27

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