Investigating the dark-side of the genome: a barrier to human disease variant discovery?

Abstract

Abstract The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a range of disease and study types, showing that dark regions are likely preventing researchers from identifying genetic variants relevant to human disease.

Keywords

• Short-read sequencing
• Dark regions
• Gene-disease associations