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 ...

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 ...

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 ...

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.

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...