The INFERNO advanced pipeline, explained
A guided tour of a real run — the IBD GWAS analyzed for regulatory colocalization and lncRNA co-expression. Every number below comes from the validated pipeline output.
1 · From GWAS hits to candidate loci
Starting variants are LD-expanded into candidate regulatory loci, then intersected with eQTLs, enhancers, and chromatin states. 2752 SNPs entered via LD expansion; 2018 are eQTLs by direct overlap.
2 · GTEx colocalization (COLOC)
COLOC asks whether a GWAS signal and a tissue's eQTL signal share one causal
variant — its PP.H4 is the posterior probability of exactly
that. Filtering to PP.H4 ≥ 0.5 yields
688 tissue–gene
comparisons across 202 distinct genes.
3 · lncRNA co-expression
For each long non-coding RNA near a signal, INFERNO correlates its expression with every gene across GTEx tissues to nominate functional partners. This run covers 34 query lncRNAs.
Why this is now feasible
Performance work took the advanced pipeline from ~9.3 h to ~45 min (warm) while staying byte-for-byte identical — which is what makes an interactive, instructive explorer like this practical.