The alternative text for this image may have been generated using AI. VUS arise when there is insufficient evidence to classify a variant as either pathogenic or benign, which is often based on ...

Current methods for variant effect prediction do not differentiate between pathogenic variants resulting in different disease outcomes and are restricted in application due to a focus on variants with ...

Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking ...

Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

An international research consortium co-led by scientists from Vanderbilt University Medical Center, the University of Toronto and University of Pittsburgh has mapped the functional impact of more ...