Opal Research™

Rapidly identify genetic variants from NGS data with automated annotations, preconfigured analysis workflows, and interactive discovery tools

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Over 500 research and clinical institutions trust Omicia

Accurately identify and prioritize causative variants

Opal’s analysis of each gene variant with VAAST ensures that the most likely disease gene candidates are evaluated first– a superior approach to simpler filtering methodologies where a candidate may be prematurely removed.

VAAST (Variant Analysis and Annotation Selection Tool):

• Analyzes each variant for its impact on protein function, conservation, and frequency in a population

• Ranks each affected gene by its likelihood to cause disease

Assess the links between disease and prioritized genes with automated clinical annotations

•  Sequencing Quality Assessment – Determine the quality of your genome variant file with the Omicia Clinical Grade.

•  Automated Genome Annotation – Attach evidence to every variant with known clinical relevance, drawing annotations from data sources including OMIM, ClinVar, and COSMIC.

•  Predicted Pathogenicity Scoring – Assess each variant on the severity of its impact on protein function with 19 scores including SIFT, PolyPhen, CADD, and the Omicia Variant Score.

Refine your causative variant and disease gene discovery process with interactive analysis tools

Opal provides robust, interactive filtering tools you to sort, select, and remove genes and variants by criteria such as:

•  Predicted pathogenicity

•  Type and impact of protein structural change

•  Evidence of associated disease, biological function, or drug interaction

•  Genome region (intron or intergenic), gene type (coding vs non-coding), or chromosome/base pair position

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workflow to pinpoint disease-causing genes.

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