RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...

A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how ...

Researchers at the Central Institute of Mental Health (CIMH) in Mannheim, together with international partners, have ...

Ancient viral DNA embedded in the human genome may boost people's susceptibility to neuropsychiatric disorders, such as depression, bipolar disorder and schizophrenia. A study published in May in the ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at ...

University of California San Diego of Medicine researchers, in collaboration with the genetic testing company 23andMe, have ...