Ideas for BioData Catalyst from the scientific researcher community

From genomic association to functional exploration

Once a set of associated variants is identified from a genomewide scan, an assessment of their potential function is needed to move forward toward biological insight. It would be useful to leverage the GTEx and MODs (Alliance) data to assess: 1) for GTEx: if the intergenic variants have evidence of regulatory function and, if known, what genes are they regulating? 2) for MODS: if a target gene is identified (eg the associated variant if LOF in that gene), what information is there from animal models as to function of the gene? Are there knock out / in / down experiments that can shed light? What is the most appropriate animal model for possible functional followup studies? It would be great to be able to submit a set of variants for such annotation and receive back information from these knowledge databases.



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Idea No. 4