Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Despite major advancements in cardiovascular medicine, sudden cardiac death (SCD)
continues to be an enormous medical and societal challenge, claiming millions of lives …

Polygenic scores quantify inherited risk by integrating information from many common sites
of DNA variation into a single number. Rapid increases in the scale of genetic association …

Elucidating the role of 3D architecture of DNA in gene regulation is crucial for understanding
cell differentiation, tissue homeostasis and disease development. Among various chromatin …

Over the last two decades, an exponentially expanding number of genetic variants have
been identified associated with inherited cardiac conditions. These tremendous gains also …

Rare genetic diseases are typically studied in referral populations, resulting in
underdiagnosis and biased assessment of penetrance and phenotype. To address this, we …

Congenital arrhythmia syndromes are rare genetic disorders that can cause a high risk of
sudden cardiac death. Expert panels have affirmed 15 genes that are linked to congenital …

Clinical heterogeneity is common in Mendelian disease, but small sample sizes make it
difficult to identify specific contributing factors. However, if a disease represents the severely …

Abstract Purpose The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS)
are Mendelian autosomal dominant diseases that frequently precipitate fatal cardiac …

Genetic testing is crucial in inherited arrhythmogenic channelopathies; however, the clinical
interpretation of genetic variants remains challenging. Incomplete penetrance, oligogenic …