A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.

ABSTRACT:

Purpose

We evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM).

Methods

Cardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified using variant-level and gene-level characteristics.

Results

A majority of DCM cases and controls carried rare protein-altering cardiomyopathy gene variants. Variant-level characteristics alone had limited discriminative value. Differentiation between groups was substantially improved by addition of gene-level information that incorporated ranking of genes based on literature evidence for disease association. The odds of DCM were increased to nearly 9-fold for truncating variants or high-impact m

SUBMITTER: Horvat C 

PROVIDER: S-EPMC7336363 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature