MutantHuntWGS

MutantHuntWGS identifies genetic variants by aligning paired and single-end sequencing reads from mutant and wild-type strains, calling variants, and predicting their effects and severity to aid biological interpretation.

Key Features:

• Utilization of open-source tools: Incorporates established open-source programs to perform sequence alignment, variant calling, and effect/severity prediction.
• Sequence alignment: Aligns paired and single-end sequencing reads from mutant and wild-type strains for comparative analysis.
• Variant calling: Detects genetic variants by comparing aligned sequences between mutant and wild-type samples.
• Effect prediction: Predicts the potential impact and severity of identified variants to support biological interpretation.
• Comprehensive output: Produces a concise list of significant variants and retains intermediate analysis files for further inspection.

Scientific Applications:

• Causal variant identification: Identification of causal mutations by comparing mutant and wild-type strains, validated on multiple published datasets that reported previously known causal variants.

Methodology:

The pipeline performs sequence alignment of reads from mutant and wild-type strains, calls genetic variants by comparing aligned sequences, and predicts the impact and severity of identified variants.