The effect of opting-in versus opting-out forming on the rate of reported variants of questionable significance in prenatal microarray.

Jumana Haddad-HallounAva WexlerMoran EcharAmalia Harari-ShahamShirley Polager-ModanRawan ZaatryRasha MaayoufMaisa AssadiOlga KrivorukAmir PelegSagi-Dain Lena

Published in: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics (2024)

We present a simple and effective method to decrease the rate of reported findings of questionable significance in the prenatal setting. These results are important not only for microarray results, but also for next-generation sequencing techniques, such as whole exome or genome sequencing.

Keyphrases

copy number
pregnant women
genome wide
single cell
bioinformatics analysis
gene expression