Omicia's Opal Research is an SaaS platform that integrates a comprehensive, automated genome annotation engine with the VAAST variant prioritization tool to rank gene variants on the severity of their impact on protein function and likelihood to cause disease.
Variant Annotation and Disease Gene Mutation Discovery
Access all gene variant-related information, including medical references and predictive scores, with the Variant Miner genome browser.
Automated Annotation - Attach evidence to all gene variants with known medical relevance, drawing annotations from comprehensive gene databases including OMIM, ClinVar, HGMD Lite, Locus-Specific Databases, GWAS, and PharmGKB.
Integrated Pathogenicity Disease Scoring - Each variant is assessed on the severity of its impact on protein function using multiple algorithms including the Omicia Variant Score, which aggregates several widely-used variant scoring algorithms as a single output.
Cross-Genome Comparison - Find shared or unique variants and mutated genes between multiple genomes
Interactive Filtering - Sort, select, or remove variants from your gene lists by criteria such as:
----- Predicted disease-causing potential (as determined by Omicia Score and/or SIFT)
----- Evidence of associated disease or biological function
----- Type and impact of protein structural change (determined by PolyPhen)
----- Frequency of variant occurrence in a specific population
----- Genome region (intron or intergenic), gene type (coding vs non-coding), or chromosome/base pair position
Disease Gene Prioritization
Omicia's Vaast: Variant Annotation, Analysis And Search Tool algorithm is integrated into the user-friendly Opal interface. VAAST analyzes each gene variant based on impact on protein function, conservation and frequency to prioritize causative genes. VAAST also reduces false positives from sequencing, alignment, and variant-calling errors
Causative Ranking - Rank genes instead of filtering to ensure critical targets are not prematurely removed, a superior approach to filtering methodologies.
Automated Workflows - for individual, family (duo, trio, quad), or cohort genome analyses
Quality Assurance - The Omicia Clinical Grade is a compilation of commonly used quality control criteria to determine the quality of your genome variant file before performing interpretation analysis
Version Control - Keep track of your “variant discovery process” with saved previous and current states of your filter reports
Collaboration - Share genomes, gene sets, and projects with collaborators inside your organization, or with external partners.