Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.

Sophie L V M StroeksDebby M E I HellebrekersGodelieve R F ClaesUpasana TayalIngrid P C KrapelsEls K VanhoutteArthur van den WijngaardMichiel T H M HenkensJames S WareStephane R B HeymansHan G BrunnerJob A J Verdonschot

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Stringent gene selection for DCM genetic testing reduced the number of VUS while retaining ability to detect similar P/LP variants. The number of genes on diagnostic panels should be limited to genes that have the highest signal to noise ratio.

Keyphrases

genome wide
genome wide identification
copy number
bioinformatics analysis
genome wide analysis
dna methylation
transcription factor
air pollution
gene expression