Translate your next-generation
sequencing data into actionable
information for clinical testing,
disease research, and
drug development

Genome interpretation software solutions for clinicians and researchers

Omicia’s Opal™ platform integrates clinically-validated genome analysis algorithms and automated clinical annotations, enabling you to identify and report on disease-causing genes with unprecedented accuracy and efficiency.

Learn how Opal can help you make sense of your genomic data. Schedule a free Opal demonstration.

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A primer on genome interpretation:
How Omicia is transforming personalized medicine

Opal Research

Solutions for Basic & Translational Research

Causative Disease Gene Identification

Disease Studies with Cohort & Family Data

Shared Gene Variant and Mutation Discovery

Opal Research integrates a suite of disease gene prioritization algorithms and annotation tools to help researchers identify the genetic cause of disease.

Opal’s VAAST and Phevor algorithms are the most effective tools on the market for pinpointing gene variants and de novo mutations in NGS genomic data. Opal provides pre-configured workflows to expedite the interpretation of single genomes, families or cohorts.


  Explore Opal Research  

Opal Clinical

Solutions for Clinical Testing

NGS Panel Curation and Interpretation

NGS Reporting on Individuals and Trios

Genome Interpretation for Complex Cases

Opal Clinical is the end-to-end interpretation and reporting software solution for running NGS clinical tests on targeted panels, whole genomes, and exomes.

Our CLIA and HIPAA-compliant platform seamlessly integrates into laboratory information systems, with customizable reports for review, approval, and output to EMRs.  Opal’s robust functionality also allows you to assess candidate disease genes to build customized NGS panels.


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Opal Clinical Trials

Solutions for Drug Development

Clinical Trials Stratification

Disease-Associated Biomarker Discovery

Cohort Analysis for Shared Mutations

Opal Clinical Trials complements every stage of the clinical trial process, from pre-phase 1 biomarker discovery to later stage analysis of drug response in patient cohorts.

Opal helps to rank and prioritize gene variants of interest, integrating annotations on actionable gene-drug associations to augment study designs. With Opal, you can segment clinical trial participants, and develop therapies as well as companion diagnostics based on genomic signatures.


Explore Opal Clinical Trials

Omicia’s bioinformatics approach enables the application of genomics to the clinic.
The Opal platform reduces costs, improves the accuracy of interpretation, and increases the speed of reporting.

Validated Disease Gene Prioritization

The VAAST algorithm compares gene variants in disease-affected versus non-affected people, and combines this data with information on predicted protein structure changes to rank variants by their likelihood to cause disease.  Prioritized lists of candidate disease-genes can be output for further analysis with Phevor, which incorporates disease phenotype information to significantly increase the accuracy of identifying disease-causing alleles.

Streamlined NGS Testing & Reporting

Opal’s standardized interpretation workflows seamlessly integrate into a diagnostic lab workflow, and support report review, approval, and electronic sign-out. In addition to testing and reporting on causative variants in targeted panels, whole genome or exome data, Opal’s robust functionality allows you to assess & classify candidate variants to build customized gene as well as variant-based panels.



Interactive Disease Gene Discovery

Use Opal’s interactive filtering tool to sort, select, or remove variants from your gene lists by criteria such as: predicted pathogenicity, evidence of biological function; type of protein structural change; and evidence of associated disease. Easily compare family or cohort genomes including mode of inheritance to identify causal candidates.

Automated Gene and Variant Annotation

Accelerate your interpretation process with annotations for all gene variants with known clinical relevance, drawing evidence from comprehensive databases on disease and disease phenotype (Clinvar, OMIM), hereditary mutations (HGMD), somatic cancer mutations (COSMIC), and drug interactions (PharmGKB).

Want to see how Opal software can work for you? Get a free demo and let us show you how.

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Pioneers in genomics, diagnostics, and bioinformatics

Omicia’s leaders have proven track records, including senior roles on the Human Genome Project, at LabCorp, Merck, and Quest Diagnostics.

We’ve built the Opal platform to deliver genomics-based solutions that expedite diagnoses, improve medical outcomes, and accelerate understanding of the genetic basis of disease.  Meet our leaders >

Omicia executives

Trusted by leaders in translational and clinical omics

Over 400 research, pharma, and clinical diagnostics labs rely on Omicia’s technological precision and clinical expertise.

Omicia’s algorithms have been developed in the lab, designed for the clinic, and have been validated in dozens of published research and clinical studies.  Read our publications >

Over 300 translational research and clinical institutions trust Omicia's products

Omicia launches ‘Opal Clinical’
VentureBeat. October 15, 2014

Digital DNA on blue background_190x134

When Disease Strikes from Nowhere
Nature 513, 445–448. September 18, 2014

Omicia in the News: When Disease Strikes from Nowhere. Nature, 2014