RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Background Intestinal fibrosis, a hallmark complication of Crohn’s disease (CD), frequently progresses to stricture formation ...

A research team compared cassava—naturally adapted to tropical climates—with heat-sensitive potato to understand how each ...