Using artificial intelligence, Garvan Institute researchers have found potential cancer drivers hidden in so-called ‘junk’ regions of DNA, opening up possibilities for a new approach to diagnosis and ...

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 ...

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

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 ...