heart disease
Study Explores Familial Hypercholesterolemia Genetic Risk, Targeted Screening Possibilities
Investigators estimated yields of targeted familial hypercholesterolemia screening programs that rely on clinical, genetic testing, or combined data.
The CardioGenomic Testing Alliance aims to increase the utilization of NGS panels for numerous cardiac conditions including arrhythmias and cardiomyopathies.
International Heart Rhythm Societies Set Out Recommendations on Genetic Testing for Cardiac Diseases
The consensus statement, published this week, should help to guide decision-making around genetic testing for a variety of cardiac conditions.
Brugada Syndrome GWAS Reveals Role of Sodium Channel, Other Contributors to Heart Condition
Investigators identified 12 loci linked to the life-threatening cardiac arrhythmia condition, using TWAS, PheWAS, polygenic risk scoring, and other analyses to interpret these risk sites.
UK Biobank Exome Study Uncovers Rare Variants Contributing to Cardiometabolic Disease, Traits
Researchers flagged 57 genes linked to cardiovascular or metabolic traits or conditions, including Mendelian disease genes and genes impacted by common variants.