Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

A new set of genes that contribute to Parkinson’s disease risk has been identified.

Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, finds a new global study.

The recent bankruptcy of genetic testing firm 23andMe has raised alarms for privacy advocates and consumers worried about ...

A longstanding mystery in Parkinson's disease research has been why some individuals carrying pathogenic variants that increase their risk of PD go on to develop the disease, while others who also ...

Discover how the GenomeIndia project achieved a groundbreaking milestone by identifying 180 million genetic variants, ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving ...

Rady study uses PacBio long-read sequencing for RFX3 variant in adolescent patient with autism, showcasing clinical genomics ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

Atherosclerosis is when plaque forms in the arteries. This can lead to blood clots that may suddenly stop blood supply; when ...

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper ...