[HTML][HTML] The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
TJ Pugh, MA Kelly, S Gowrisankar, E Hynes… - Genetics in …, 2014 - Elsevier
Purpose Dilated cardiomyopathy is characterized by substantial locus, allelic, and clinical
heterogeneity that necessitates testing of many genes across clinically overlapping
diseases. Few studies have sequenced sufficient individuals; thus, the contributions of
individual genes and the pathogenic variant spectrum are still poorly defined. We analyzed
766 dilated cardiomyopathy patients tested over 5 years in our molecular diagnostics
laboratory. Methods Patients were tested using gene panels of increasing size from 5 to 46 …
heterogeneity that necessitates testing of many genes across clinically overlapping
diseases. Few studies have sequenced sufficient individuals; thus, the contributions of
individual genes and the pathogenic variant spectrum are still poorly defined. We analyzed
766 dilated cardiomyopathy patients tested over 5 years in our molecular diagnostics
laboratory. Methods Patients were tested using gene panels of increasing size from 5 to 46 …
