Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

A newly developed AI can predict which diseases specific genetic mutations are likely to cause, not just whether they are ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, unlocking faster diagnoses and new targets for therapy.

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...