Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

Abstract Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to ev...

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Principais autores:	Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong
格式:	Artigo
語言:	Inglês
出版:	BMC 2024-09-01
叢編:	BMC Pregnancy and Childbirth
主題:	Fetal whole exome sequencing Fetal anomalies Recurrent phenotype Frequent gene
在線閱讀:	https://doi.org/10.1186/s12884-024-06782-8
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