Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 67,095 bioRxiv papers from 295,233 authors.

INFERNO - INFERring the molecular mechanisms of NOncoding genetic variants

By Alexandre Amlie-Wolf, Mitchell Tang, Elisabeth E. Mlynarski, Pavel P. Kuksa, Otto Valladares, Zivadin Katanic, Debby Tsuang, Christopher D Brown, Gerard D. Schellenberg, Li-San Wang

Posted 30 Oct 2017
bioRxiv DOI: 10.1101/211599 (published DOI: 10.1093/nar/gky686)

The majority of variants identified by genome-wide association studies (GWAS) reside in the noncoding genome, where they affect regulatory elements including transcriptional enhancers. We propose INFERNO (INFERring the molecular mechanisms of NOncoding genetic variants), a novel method which integrates hundreds of diverse functional genomics data sources with GWAS summary statistics to identify putatively causal noncoding variants underlying association signals. INFERNO comprehensively infers the relevant tissue contexts, target genes, and downstream biological processes affected by causal variants. We apply INFERNO to schizophrenia GWAS data, recapitulating known schizophrenia-associated genes including CACNA1C and discovering novel signals related to transmembrane cellular processes.

Download data

  • Downloaded 620 times
  • Download rankings, all-time:
    • Site-wide: 15,835 out of 67,095
    • In bioinformatics: 2,458 out of 6,614
  • Year to date:
    • Site-wide: 46,901 out of 67,095
  • Since beginning of last month:
    • Site-wide: 59,857 out of 67,095

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide

Sign up for the Rxivist weekly newsletter! (Click here for more details.)