A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients [Original Articles]

Conclusions— WGS detected nearly all variants identified on panel testing, provided 1 new diagnostic finding, and allowed interrogation of posited disease genes. Several variants of uncertain clinical use and numerous secondary genetic findings were also identified. Whereas panel testing and WGS provided similar diagnostic yield, WGS offers the advantage of reanalysis over time to incorporate advances in knowledge, but requires expertise in genomic interpretation to appropriately incorporate WGS into clinical care. Clinical Trial Registration— URL: https://clinicaltrials.gov. Unique identifier: NCT01736566.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Genetics, Functional Genomics, Cardiomyopathy Original Articles Source Type: research