Inferring fetal fractions from read heterozygosity empowers thenoninvasive prenatal screening

PurposeFetal fraction (FF) is the percent of cell-free DNA (cfDNA) in the mother’s peripheral blood that is of fetal origin, which plays a pivotal role in noninvasive prenatal screening (NIPS). We present a method that can reliably estimate FFs by examining autosome single-nucleotide polymorphisms (...

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Veröffentlicht in:Genetics in medicine 2020-02, Vol.22 (2), p.301-308
Hauptverfasser: Dang Minghao, Xu, Hanli, Zhang, Jingbo, Wang, Weiwei, Bai, Ling, Fang, Nan, Lin, Liang, Zhang Junrong, Liu Feiran, Wu Qixi, Wang, Shaowei, Guan Yongtao
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