To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

Whether we are predisposed to particular diseases may depend to a large extent on variations in our genomes, but the influence on the presentation of certain pathological traits of genetic variants ...

A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first clinical confirmation that previously uncharacterized genetic variants in the ...

The gene variant posing the greatest genetic risk of late-onset Alzheimer's disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.

Marcy Richardson from Ambry Genetics discusses the importance of a new study that assessed the functional impact of thousands of BRCA2 variants, identifying those that may increase cancer risk. What ...