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 ...

Precision medicine has revolutionized the landscape of neurological care, shifting from “one-size-fits-all” approaches to ...

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...

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 ...

Genetic risk models and variant classification tools are refining breast cancer risk assessment by identifying high-risk ...