PNGC is pleased to announce the release of the INFERNO (INFERing the molecular mechanisms of NOncoding genetic variants) method ( Since the majority of variants that genome-wide association studies (GWAS) identify are outside of protein-coding genes and may be proxies of truly causal variants that are inherited together in linkage disequilibrium (LD), there is a need to integrate large-scale genomics datasets measuring regulatory activity in the noncoding genome to discover the functional effects of these variants.

INFERNO is a software tool and web server that integrates public genomic data with GWAS summary statistics to characterize the mechanisms of noncoding variants underlying association signals. Given the rsIDs of top associated variants, INFERNO will identify the relevant tissue types, specific regulatory elements, and target genes affected by any of the variants in LD with top association signals. INFERNO can be applied to any SNP and GWAS dataset and will ultimately aid in the discovery of functional non-coding variants.

The pre-print manuscript of Inferno is available here, the web server is available here, and the manuscript is currently under review for publication. The software has been available since November 2017.

Leave a Reply

Your email address will not be published. Required fields are marked *

Sign up to receive journal club/seminar announcements