Current research aims to identify the functional mechanisms by which copy number variation cause diseases. Although preliminary findings suggest that the presence of copy number variants might be ...

Copy number variations (CNVs) have been linked to dozens of human diseases, but can they also represent the genetic variation that was so essential to our evolution? More recently, both aneuploidy ...

Thanks to engrained lessons from cytogenetics, researchers largely regarded variations in gene copy a rarity ... running two normal DNA controls for a cancer genome study, and "copy number differences ...

A new study published in Science Advances introduces a powerful brain imaging technique that can detect autism-linked genetic ...

Researchers from Monash University and the University of Melbourne found the rapid adaptation of invasive plants is driven by their ability to gain and lose genes, a phenomenon known as "copy number ...

Researchers have demonstrated the potential of the innovative optical genome mapping (OGM) technique for the diagnosis, prognosis, and therapeutic management of multiple myeloma. This new study in The ...

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 ...