Regulatory features aid interpretation of 3’UTR variants

Description

Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3’UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

Overview of Presentation

• Most variants in ClinVar are of uncertain significance; this is especially true for 3’UTR variants.
• Many functional datasets exist that characterize 3’UTR variants and/or regulatory elements including genome wide association studies, expression quantitative trait loci, RNA binding protein immunoprecipitation studies, and microRNA target predictions.
• These datasets can be leveraged to identify functional 3’UTR variants that impact gene expression or phenotype.
• Incorporation of regulatory features into a generalized linear model enables characterization of any 3’UTR variant by its potential functional elements as well as the likelihood the variant affects expression or phenotype.
• We provide RegVar, a software tool that provides regulatory information for any 3’UTR variant and may be used to prioritize patient variants for experimental studies and improve clinical variant interpretation