Why the study?
The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated.
Can whole genome sequence findings in cardiomyopathy and arrhythmia patients guide gene-curation efforts?
Can whole genome sequence findings in cardiomyopathy and arrhythmia patients guide gene-curation efforts?
Whole genome sequencing in cardiomyopathy and arrhythmia cohorts can identify candidate genes and guide gene-curation efforts for gene-disease causality.
Answers are grounded in this paper and cite their sources.
WGS candidate findings may aid gene curation in cardiomyopathy and arrhythmia; leaves open whether they should guide patient care.
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Materials & methods: 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. Results: 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 phenotype with 11.8% having definitive evidence. MYH6 and TPCN1 were flagged for recuration. Conclusion: Findings from genome sequencing in disease cohorts may be useful to guide gene-curation efforts.
No takes yet. Share an insight, caveat, or question.
Krishnan et al. (2023) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: