Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

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

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

A review article led by researchers from the B·ARGO group at the Germans Trias i Pujol Research Institute (IGTP) and from the ...

Castle Biosciences, Inc. (Nasdaq: CSTL), a company improving health through innovative tests that guide patient care, today ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

How did horses become some of the greatest athletes in the animal kingdom? Researchers at Johns Hopkins Medicine may have found the answer, pinpointing a genetic mutation and evolutionary process that ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

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 ...

Menopausal hormone therapy (MHT) does not raise breast cancer risk in women with breast cancer gene mutations, while estrogen only MHT leads to reduced risk.

At 47, Todd Leach learned he carries a genetic mutation that significantly raised his risk for a rare stomach cancer. He had ...