regulomedb-database

What problem does it solve?

This Skill helps researchers prioritize genetic variants identified in studies like GWAS by scoring their potential regulatory function, thereby identifying variants most likely to be biologically active and relevant to disease or traits.

Core Features & Use Cases

• Variant Scoring: Assigns a score (1a-7) indicating the strength of regulatory evidence (e.g., TF binding, eQTLs, chromatin accessibility) for a given variant.
• Batch Processing: Scores lists of variants efficiently.
• Region Analysis: Identifies all regulatory variants within a specified genomic region.
• Annotation Details: Retrieves detailed evidence for a variant's regulatory role.
• Use Case: You have a list of SNPs from a GWAS study. Use this Skill to score each SNP and identify those with the highest regulatory potential (scores 1a-2b) for further experimental validation.

Quick Start

Use the regulomedb-database skill to score the variant rs4946036.