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1. (WO2018121468) METHOD, DEVICE AND KIT FOR DETECTING FETAL GENETIC MUTATION

Pub. No.:    WO/2018/121468    International Application No.:    PCT/CN2017/118213
Publication Date: Fri Jul 06 01:59:59 CEST 2018 International Filing Date: Tue Dec 26 00:59:59 CET 2017
IPC: C12Q 1/68
Applicants: ANNOROAD GENE TECHNOLOGY (BEIJING) CO., LTD
安诺优达基因科技(北京)有限公司
Inventors: DU, Yang
杜洋
PENG, Shengbin
彭胜斌
HUI, Feng
惠峰
ZHANG, Han
张晗
XUAN, Zhaoling
玄兆伶
LI, Dawei
李大为
LIANG, Junbin
梁峻彬
CHEN, Chongjian
陈重建
Title: METHOD, DEVICE AND KIT FOR DETECTING FETAL GENETIC MUTATION
Abstract:
Provided are a method and a device for detecting a genetic mutation, and a kit for typing genotypes of a pregnant woman and a fetus. The method comprises: performing high-throughput sequencing on free DNA in a pregnant woman's peripheral blood to obtain sequencing data; comparing the sequencing data with reference genome to obtain SNP sites; performing mixed genotyping on each SNP site to obtain target genotypes for each SNP site; and selecting a mutation site that causes the gene mutation from the genotype of the fetus in the target genotypes.