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.

These new predesigned assays for mutation detection and copy number variation (CNV) have been experimentally validated to provide single-copy PCR resolution without a standard curve. Droplet Digital ...

The paper is pretty straightforward, Copy number variation in African Americans: Employing a SNP platform with greater than 500,000 SNPs, a first-generation CNV map of the African American genome was ...

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 ...

Many medically relevant genes reside in “dark regions” of the genome that have long been elusive. To address this, we developed Paraphase – a computational tool that accurately resolves and analyzes ...

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 ...