Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Leonie M KurzlechnerEdward G JonesAmy M BerkmanHanna J TadrosJill Anne RosenfeldYaping YangHari TunuguntlaHugh D AllenJeffrey J KimAndrew P LandstromPublished in: Journal of personalized medicine (2022)
Incidental variants in HCM-associated genes were common among clinical ES referrals, although the majority were not disease-associated. Leveraging amino acid-level S:N as a clinical tool may improve the diagnostic discriminatory ability of ACMG criteria by identifying pathogenic hotspots.