| PI | |
|---|---|
| Description |
Expanding transcriptional regulation resources to aid in the prioritization and interpretation of non-coding disease variants Our work aims to enhance our existing resources for understanding transcriptional regulation (SCREEN & Factor), to help prioritize and annotate non-coding disease variants implicated in Mendelian diseases. We propose to create ARGO (Aggregate Rank Generator), a novel web applet for prioritizing non-coding variants. ARGO will rank variants using a combination of sequence, element-level annotations, and gene properties, incorporating rank aggregation methods for a robust analysis. It will guide users in selecting annotations and thresholds with curated sets of functionally validated variants. Additionally, we propose to integrate large language models (LLMs) to enable natural language querying, enhancing accessibility and usability of our resources. Our approach aims to provide dynamic, user-tailored variant prioritization and make complex genomic data more approachable for a wider range of researchers, including those with clinical focuses. |
| Date approved |
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