Article
Integrative analysis of noncoding mutations identifies the druggable genome in preterm birth.
Science advances - 19 Jan 2024
Wang Cheng, Wang Yuejun Jessie, Ying Lihua, Wong Ronald J, Quaintance Cecele C, Hong Xiumei, Neff Norma, Wang Xiaobin, Biggio Joseph R, Mesiano Sam, Quake Stephen R, Alvira Cristina M, Cornfield David N, Stevenson David K, Shaw Gary M, Li Jingjing
Abstract excerpt
Preterm birth affects ~10% of pregnancies in the US. Despite familial associations, identifying at-risk genetic loci has been challenging. We built deep learning and graphical models to score mutational effects at base resolution via integrating the pregnant myometrial epigenome and large-scale patient genomes with spontaneous preterm birth (sPTB) from European and African American cohorts. We uncovered...
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