BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …

Background: The American Heart Association, in conjunction with the National Institutes of
Health, annually reports the most up-to-date statistics related to heart disease, stroke, and …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

Background The American Heart Association, in conjunction with the National Institutes of
Health, annually reports the most up-to-date statistics related to heart disease, stroke, and …

A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID …

INTRODUCTION Obesity accounts for a substantial and growing burden of disease globally.
Body adiposity is highly heritable, and human genetic studies can lead to biological and …

Knowledge gained from observational cohort studies has dramatically advanced the
prevention and treatment of diseases. Many of these cohorts, however, are small, lack …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …