Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients supplementary material

<b>Aim: </b>The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. <b>Materials &amp; methods: </b>Research findings from genome analyses in a cardiomyopathy and arrhythmia cohort were gathered. Gene-disease relationships from two databases were compared with patient phenotypes. A literature review was conducted for genes with limited evidence. <b>Results: </b>Of 43 genes with candidate findings from 18 cases, 23.3% of genes had never been curated, 15.0% were curated for cardiomyopathies, 16.7% for arrhythmias and 31.3% for other conditions. 25.5% of candidate findings were curated for the patient’s specific phenotypewith 11.8% having definitive evidence. <i>MYH6 </i>and <i>TPCN1 </i>were flagged for recuration. <b>Conclusion: </b>Findings from genome sequencing in disease cohorts may be useful to guide gene-curation efforts.