Using DIVAN to assess disease/trait-associated single nucleotide variants in genome-wide scale

摘要

ObjectiveThe majority of sequence variants identified by Genome-wide association studies (GWASs) fall outside of the protein-coding regions. Unlike coding variants, it is challenging to connect these noncoding variants to the pathophysiology of complex diseases/traits due to the lack of functional annotations in the non-coding regions. To overcome this, by leveraging the rich collection of genomic and epigenomic profiles, we have developed DIVAN, or Disease/trait-specific Variant ANnotation, which enables the assignment of a measurement (D-score) for each base of the human genome in a disease/trait-specific manner. To facilitate the utilization of DIVAN, we pre-computed D-scores for every base of the human genome (hg19) for 45 different diseases/traits.