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 ...

Gene therapy has long promised to provide a solution for genetic blood disorders, but delivering on that promise has proven complex due to challenges including difficulties delivering the editing ...

The advent of gene therapies, which can target specific variants, means pinpointing the genetic roots of each patient’s disease has taken on new importance, researchers said. A team of researchers ...

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 ...

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on ...

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 ...

Cancer treatment is becoming more personalized. By considering a patient's unique genetic and molecular profile, along with their lifestyle and environmental factors, doctors can make more accurate ...