Dominant Actionable Disease Genes

Cross-source consensus on Dominant Actionable Disease Genes from 1 sources and 6 claims.

1 sources · 6 claims

Uses

Among phenotype-filtered participants, 3.73% carried at least one pathogenic or likely pathogenic variant in dominant actionable genes. — Population-scale genomic medicine with the Hong Kong Genome Project
The study assessed 73 ACMG secondary finding genes for dominant autosomal or X-linked disorders. — Population-scale genomic medicine with the Hong Kong Genome Project
Cardiovascular actionable gene burden was higher than cancer-related and other categories in the Hong Kong Chinese cohort. — Population-scale genomic medicine with the Hong Kong Genome Project
SCN5A, TTN, LDLR, DSG2, and APOB had markedly higher frequencies than other continental populations. — Population-scale genomic medicine with the Hong Kong Genome Project
The observed cardiovascular patterns support Chinese-specific prioritization of early disease risk panels. — Population-scale genomic medicine with the Hong Kong Genome Project
Local familial hypercholesterolemia testing may yield more by focusing on LDLR and APOB than PCSK9 in this cohort. — Population-scale genomic medicine with the Hong Kong Genome Project