A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

Cancer begins when mutations in specific genes override the body’s built-in controls on cell division, allowing rogue cells ...

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 ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

After learning that they carry a mutated version of the BRCA1 gene, their options were to undergo intensive monitoring every six months or to have preventive surgeries involving profound changes to th ...

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 ...

The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of JUF, and is supported in part by the Michael Reese Health Trust.

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...