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INFERNO: inferring the molecular mechanisms of noncoding genetic variants.

Nucleic acids research - 28 Sept 2018

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

Abstract excerpt

The majority of variants identified by genome-wide association studies (GWAS) reside in the noncoding genome, affecting regulatory elements including transcriptional enhancers. However, characterizing their effects requires the integration of GWAS results with context-specific regulatory activity and linkage disequilibrium annotations to identify causal variants underlying noncoding association signals and the...

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PMID: 30113658
DOI: 10.1093/nar/gky686
PMCID: PMC6158604

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