Working Group: Functional Impact of Non-Coding Variation

man pointing at computer screen that is being viewed by another man

Methods for annotating coding variants for their functional impact on the gene within they are found have proven important for the analysis and interpretation of coding variation. Unfortunately, reliable methods are not currently available for non-coding variation. We are working on approaches that leverage multiple high-throughput assays to extract genomic features that predict impact on transcription factor binding and gene expression.

Topics –

  • Methods for assessing the functionality of non-coding mutations