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 ...

Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...

Uncovering how rare genetic changes disrupt brain signaling and structure, this landmark study sheds new light on the roots of schizophrenia and opens doors for future therapies. Study: Whole-exome ...