Nature

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes

Human genomes frequently mutate through duplication and deletion, leading to copy number variation. Roughly 10% of protein-coding genes have shown copy number variation, with distinct distributions ...
Medical Xpress

New NIPT-based method reveals 33 pathogenic copy number variations in the Duchenne muscular dystrophy gene

A recent large cohort study, conducted jointly by researchers from BGI Genomics and Nanjing Women and Children's Healthcare Hospital, implemented a self-developed prenatal screening strategy to ...
Nature

Maternal copy number variations detected by noninvasive prenatal testing in Japanese women

Non-invasive prenatal testing (NIPT) is a screening method that detects fetal chromosomal trisomies from cell-free DNA in maternal blood. Because NIPT uses whole-genome sequencing with next-generation ...
EurekAlert!

Effectiveness of machine learning at modeling the relationship between Hi-C data and copy number variation

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 ...