Whole exome sequencing improves genetic diagnosis of fetal clubfoot.

Ruibin HuangHang ZhouChunling MaFang FuKen ChengYou WangRu LiTingying LeiQiuxia YuDan WangShujuan YanXin YangDongzhi LiCan Liao

Published in: Human genetics (2022)

our data indicate that WES has a high additional diagnostic yield for the molecular diagnosis of fetal CF, markedly enhancing existing prenatal diagnostic capabilities and expanding our understanding of intrauterine genetic disorders, thus assisting us to better interpret fetal phenotype in the future.

Keyphrases

genome wide
cystic fibrosis
pregnant women
copy number
current status
dna methylation
deep learning