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 ...

Comparative genomic hybridization (CGH) was developed to identify pathogenic DNA copy-number changes (e.g., duplications, deletions) on a genome-wide scale, and to map these changes to genomic ...

Cancer researchers have long treated genetic chaos and epigenetic rewiring as separate engines of disease, two parallel ...

Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown. A new paper that presents, for the first time, the complete ...