Whole DNA sequencing reveals mutations, new gene for blinding disease

Researchers have tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns.