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 ...

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is testing popEVE in clinical settings to see if it can speed accurate diagnoses of ...

A new AI tool developed by Harvard Medical School researchers could significantly improve how we diagnose and understand rare genetic diseases. Every human genome contains tens of thousands of small ...

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 ...

How would you summarize your study for a lay audience? Our study introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes ...