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.

We have created a new R package called Copy-scAT (copy number inference using single-cell ATAC-seq data) to infer copy number genetic alterations using scATAC-seq data. When performing scATAC using ...

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 ...

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies ...

Association of Timely Comprehensive Genomic Profiling With Precision Oncology Treatment Use and Patient Outcomes in Advanced Non–Small-Cell Lung Cancer Somatic chromosomal alterations, particularly ...

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 ...