Article
Utilizing non-invasive prenatal test sequencing data for human genetic investigation.
Cell genomics - 9 Oct 2024
Liu Siyang, Liu Yanhong, Gu Yuqin, Lin Xingchen, Zhu Huanhuan, Liu Hankui, Xu Zhe, Cheng Shiyao, Lan Xianmei, Li Linxuan, Huang Mingxi, Li Hao, Nielsen Rasmus, Davies Robert W, Albrechtsen Anders, Chen Guo-Bo, Qiu Xiu, Jin Xin, Huang Shujia
Abstract excerpt
Non-invasive prenatal testing (NIPT) employs ultra-low-pass sequencing of maternal plasma cell-free DNA to detect fetal trisomy. Its global adoption has established NIPT as a large human genetic resource for exploring genetic variations and their associations with phenotypes. Here, we present methods for analyzing large-scale, low-depth NIPT data, including customized algorithms and software for genetic variant...
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