A comprehensive strategy for exome-based preconception carrier screening.

Suzanne C E H Sallevelt Bart de KoningRadek SzklarczykAimee D C PaulussenChristine E M De Die-SmuldersHubert J M Smeets

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

We conclude that WES is applicable for PCS, both for consanguineous and nonconsanguineous couples, with the remaining number of variants being manageable in a clinical setting. The addition of gene panels for filtering was not favorable because it resulted in missing pathogenic variants. It is important to develop and continuously curate databases with pathogenic mutations to further increase the sensitivity of WES-based PCS.Genet Med advance online publication 27 October 2016.

Keyphrases

copy number
genome wide
dna methylation
social media
health information
healthcare
intimate partner violence
gene expression
machine learning