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 ...

Had to link to a paper with such a title. Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes: ...SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic ...

Explore how gene duplications reveal insights into humanness and genomic differences between humans and primates. All told, the researchers found more than 4000 genes that showed lineage-specific ...

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 ...

Losses and duplications of whole chunks of DNA at sites across our genomes are likely to play a role in autism spectrum disorders, suggests a new study published in the journal Nature. The ...