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 ...

Evaluation of scCNV inference methods using a clinical small cell lung cancer (SCLC) dataset. (A) Sensitivity and specificity of the four scCNV inference methods applied to primary and relapse SCLC ...

The amylase gene family, particularly AMY1, exhibits extensive copy number variation (CNV) that modulates salivary amylase production and, consequently, the efficiency of dietary starch digestion.

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 ...