Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Shagun AggarwalVenugopal Satidevi VineethAneek Das BhowmikAshwani TandonAditya KulkarniDhanya Lakshmi NarayananAmrita BhattacherjeeAshwin Dalal

Published in: Prenatal diagnosis (2019)

Comprehensive phenotyping is essential for improving diagnostic performance and facilitating identification of novel genotype-phenotype associations in perinatal cohorts undergoing ES.

Keyphrases

high throughput
pregnant women
single cell
copy number
gene expression