Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Xinran DongBo LiuLin Yang Huijun WangBingbing WuRenchao LiuHongbo ChenXiang ChenSha YuBin ChenSujuan WangXiu XuWenhao ZhouYulan Lu

Published in: Journal of medical genetics (2020)

With a higher diagnostic rate, more comprehensive observation of variations and lower cost compared with conventional strategies, simultaneous analysis of CNVs and SNVs based on CES showed potential as a new first-tier choice to diagnose DD.

Keyphrases

single cell
human health
gene expression
decision making
risk assessment