Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

Dayne L FilerPiotr A MieczkowskiAlicia BrandtKelly L GilmoreBradford C PowellJonathan S BergKirk C WilhelmsenNeeta L Vora

Published in: Prenatal diagnosis (2021)

We find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping.

Keyphrases

pregnant women
single cell
high throughput
genome wide
gene expression
copy number