Service: Research-Edition [BETA]

A Comprehensive Genomic Analysis Report for Unsolved Cases

Unlocking Insight Beyond Standard Genetic Tests

When a standard genetic test yields no answers, the data itself may still hold the key. The Genoxus Research Edition is a specialized analysis service that transforms your raw genomic data into a comprehensive, research-grade report. We apply our proprietary annotation platform to your whole-genome VCF files, integrating multiple layers of clinical and functional evidence to uncover variant associations that simpler tools miss. This detailed report provides the critical insights needed to form new hypotheses, guide validation studies, and push complex investigations forward.

How It Works: A Straightforward, Powerful Process

Our service is designed for efficiency and depth, delivering maximum insight from your existing data.

Step 1: You Provide the Data

You send us the Variant Call Format (VCF) files from your subject’s Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES). 

Required VCF data should include:
Small Variants: SNVs, Insertions (INS), Deletions (DEL), and Indels (INDEL).
Structural Variants (SVs): Large deletions, duplications, and other chromosomal rearrangements.
Privacy Notice: We take patient privacy seriously. Our platform is designed to safeguard patient data as we actively prepare for HIPAA compliance certification.

Step 2: We Execute the Deep Analysis

Our proprietary bioinformatics pipeline processes your VCFs. It annotates each variant by cross-referencing a curated suite of authoritative databases, including:
NCBI ClinVar & OMIM: For clinical pathogenicity assertions and known disease phenotypes.
GWAS Catalog: For associations with complex traits and polygenic risk indicators.
COSMIC: For insights into oncogenic variants and cancer predisposition.
And other specialized sources to assess functional impact and population frequency.

Step 3: You Receive the Report (.PDF)

We deliver a detailed, static PDF report. This report consolidates findings into clear sections, including:
Details: Summary statistics of all variant types. Annotated lists of rare and novel variants with database links. Detailed exploration of structural variants and their associated genes.
Additional Data: Phenotype-relevant trait associations curated from the integrated data.
Note: This initial service model delivers a final report. Future iterations may include an interactive online interface for data exploration.

What Makes Our Analysis Different?

FeaturesTypical WGS/WES ReportGenoxus Research Edition Report
Structural Variant AnalysisOften limited or separate.Fully integrated. SVs are analyzed with the same depth as SNVs/Indels, a critical need for neurodevelopmental and rare diseases.
Data IntegrationMay use one or two primary databases.Multi-source synthesis. Correlates findings across clinical (ClinVar), research (GWAS), and somatic (COSMIC) databases for a unified view.
Primary OutputOften an online portal or complex data dump.Consolidated PDF Report. A structured, scientist-friendly document designed for review, sharing, and guiding next steps.
Designed ForGeneral diagnostic or screening.Hypothesis generation in the most challenging, undiagnosed cases.

Who Is This Service For?

  • Research Scientists & Academic Labs investigating cohorts with undiagnosed genetic conditions.
  • Clinical Geneticists & Counselors seeking a deeper second opinion on complex pediatric or neurological cases where standard panels were inconclusive.
  • Biopharma R&D Teams characterizing patient genotypes for target discovery or stratified medicine programs.
  • Advanced Patient Advocates & Families (working with their care team) who have WGS data and seek a comprehensive analysis to inform further clinical consultation.
  • For Families and Individuals: Finally, Genoxus aims to deliver reports that are accessible and understandable to non-specialists. However, during the beta development phase, some portions of the output may require contextual interpretation by a qualified expert (e.g. terminology, classification, nomenclature…).
Disclaimer: Genoxus materials, reports, analyses, and platform outputs are provided for research, educational, and informational purposes only. They are not intended to serve as clinical, diagnostic, or medical advice and have not been validated or approved for use in medical decision-making. Any insights or interpretations generated by Genoxus are exploratory in nature and are intended to support research, evaluation, and collaborative learning. These materials should not be used as the sole basis for diagnosis, treatment, patient management, or healthcare decisions. All medical or clinical decisions should be made in consultation with qualified healthcare professionals and supported by appropriately validated clinical testing.

Join Us on the Journey

We collaborate with clinicians, researchers, healthcare organizations, and strategic partners who share our commitment to advancing precision medicine.