The identification of 12 genes with robust association to dilated cardiomyopathy will improve the interpretability of diagnostic genetic testing and reduce inconclusive findings.
In the largest sequenced DCM cohort yet described, we observe robust disease association with 12 genes, highlighting their importance in DCM and translating into high interpretability in diagnostic testing. The other genes analyzed here will need to be rigorously evaluated in ongoing curation efforts to determine their validity as Mendelian DCM genes but have limited value in diagnostic testing in DCM at present. This data will contribute to community gene curation efforts and will reduce erroneous and inconclusive findings in diagnostic testing.
Mazzarotto et al. (Mon,) studied this question.