Severe obesity is a rapidly growing global health threat. Although often attributed to unhealthy
lifestyle choices or environmental factors, obesity is known to be heritable and highly …

INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …

Importance Detection of disease-associated variants in theBRCA1andBRCA2(BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives To …

There is growing interest in communicating clinically relevant DNA sequence findings to
research participants who join projects with a primary research goal other than the clinical …

Purpose Standardized and accurate variant assessment is essential for effective medical
care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (…

Importance Pathogenic DNA variants associated with familial hypercholesterolemia, hereditary
breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized as …

Accurate and consistent variant classification is required for Precision Medicine. But clinical
variant classification remains in its infancy. While recent guidelines put forth jointly by the …

The RASopathies are a complex group of conditions regarding phenotype and genetic etiology.
The ClinGen RASopathy Expert Panel (RAS EP) assessed published and other publicly …

Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a
family of developmental disorders termed “RASopathies,” which are caused mainly by gain-…

Purpose The clinical utility of screening unselected individuals for pathogenic BRCA1/2
variants has not been established. Data on cancer risk management behaviors and diagnoses …