aRgus

aRgus provides extraction, visualization, and interpretation of genetic variant data with emphasis on non-synonymous single nucleotide variants (nsSNVs) using integrated data from ClinVar and gnomAD.

Key Features:

• Multilevel Visualization: Visualizes chromosomal exon–intron structures, protein domain annotations, and variant distributions from ClinVar and gnomAD to present genomic and proteomic context.
• Position-specific Pathogenicity Modeling: Implements position-specific variant effect prediction score modeling to assess pathogenic potential of nsSNVs at single amino acid resolution.
• Data Integration: Aggregates genetic, protein, functional, and conservation data from multiple databases to support variant evaluation.

Scientific Applications:

• Variant Interpretation: Supports interpretation of variant significance by combining distribution data and predicted effects on protein function.
• Protein Domain Analysis: Identifies regions within proteins that are susceptible to variation by mapping variants onto domain annotations.
• Experimental Design Support: Informs selection of critical protein regions and candidate variants for targeted in vitro studies.

Methodology:

Extraction and integration of variant data from databases including ClinVar and gnomAD; visualization of chromosomal exon–intron structures and protein domain annotations with mapped variant distributions; and position-specific variant effect prediction score modeling at single amino acid resolution using aggregated genetic, protein, functional, and conservation data.