genomics-variant-annotation

What problem does it solve?

This Skill transforms raw genetic variants into biologically meaningful information, helping researchers understand their potential impact on genes and proteins.

Core Features & Use Cases

• Functional Impact Prediction: Predicts the effect of variants using tools like VEP, SnpEff, and ANNOVAR.
• Consequence Typing: Assigns standard consequence types (e.g., HIGH, MODERATE, LOW, MODIFIER).
• Scoring: Provides SIFT, PolyPhen-2, and CADD scores for missense variants.
• Use Case: Analyze a VCF file from a patient's whole-genome sequencing data to identify variants that are predicted to be high-impact or deleterious, prioritizing them for further investigation.

Quick Start

Annotate the variants in 'input.vcf' and save the results to the 'output_dir'.