Genome Sequencing and Variant Calling of HCM Patients with MYH7 Variants

To investigate potential genetic causes of cardiomyopathy we recruited 48 patients harboring rare MYH7 variants identified from panel-based testing and with a clinical manifestation of cardiomyopathy. Genome sequencing was performed to identify other potential causative variants and genetic modifiers of the cardiomyopathy phenotype, which varied among patients.

• Type: Case-Cohort
• Archiver: The database of Genotypes and Phenotypes (dbGaP)