Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

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

A mysterious genetic disease wiped out generations of one family before science uncovered its cause. This talk reveals how a ...

There is no cure for the rare disease Hereditary Spastic Paraplegia (HSP), but researchers from Drexel University's College ...

Scientists discovered that certain gene changes allow cells to function even when frataxin, the protein lost in Friedreich’s ...

With a rate of mutation 35 percent higher than random chance, this previously unknown weakness could be a major vector for ...

There is no cure for the rare disease Hereditary Spastic Paraplegia (HSP), but researchers from Drexel University’s College ...

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 ...

European fertility clinics used cancer-causing sperm for 17 years, prompting urgent calls for genetic screening reforms and ...

GRIN2A gene mutations emerge as single-gene cause of childhood schizophrenia, anxiety, and mood disorders, potentially ...

A sperm donor with a rare genetic mutation linked to an increased risk of developing cancer fathered at least 197 children across Europe, some of whom have already died from the disease, according to ...

Researchers discovered that a tiny structural feature of the enzyme GPX4 helps keep neurons safe. A rare mutation removes ...