FATHMM-indel

FATHMM-indel predicts the functional impact (pathogenic versus neutral) of small insertions and deletions (indels) in non-coding regions of the human genome.

Key Features:

• Non-coding indel classification: Predicts pathogenicity of small insertions and deletions located outside the exome in the human genome.
• Integrative input data: Leverages a variety of genomic annotations alongside sequence data to inform predictions.
• Genome-wide prioritization: Prioritizes small indels across the entire non-coding genome.
• Benchmark performance: Demonstrated superior performance compared to CADD and GAVIN in evaluations of non-coding variant pathogenicity.

Scientific Applications:

• Disease association studies: Prioritizes non-coding indels for association with Mendelian and complex diseases.
• Functional interpretation of variants: Assesses functional consequences of non-coding variants implicated in complex traits.
• Variant prioritization in genomic research: Ranks small indels for downstream experimental validation and analysis.

Methodology:

Integrates genomic annotations with sequence data using an integrative predictive model to classify the functional impact of non-coding indels.