SNVs · Indels · CNVs
Identify single-nucleotide variants, insertions/deletions and copy-number variants in a single workflow.
GVD · GenomSys Variant Discovery
Precision medicine, natively MPEG‑G
A clinical-grade platform that operates natively on ISO/IEC 23092 (MPEG‑G) conformant sequencing data — enabling accurate variant identification, annotation and interpretation to support diagnostic and treatment decisions.
- 3
- variant types — SNV / indel / CNV
- <1s
- selective access
- 13485
- ISO quality-management system
See it in action
A guided product walkthrough
Watch GenomSys Variant Discovery take a whole-exome sample from upload through variant calling, curated annotation and dynamic filtering to the final interpretation — the full clinical workflow, end to end.
What it does
Hereditary diagnostics, from sequencer to report
Targeted at hereditary-disease diagnostics through whole-exome sequencing, GVD delivers a fully integrated secondary and tertiary analysis — directly in MPEG‑G — combining cutting-edge bioinformatics with an intuitive interface designed for clinical geneticists.
Curated annotation
Integrated with a continuously curated human genetic-variants database — annotation that keeps up with the literature. The database can be integrated with the source of your choice on request.
Dynamic filtering
A large set of easy-to-use yet powerful features for narrowing down candidate variants by frequency, classification, zygosity, gene panel and more.
Selective access
Focus on the genetic targets you care about without re-processing the whole dataset — possible because of MPEG‑G.
Native encryption
Patient data stays protected end-to-end thanks to MPEG‑G's built-in encryption and signature primitives.
Cloud or on-prem
Run on a managed cloud environment or deploy on your own servers — same workflow, same results.
GATK-compliant
Variant-calling pipelines built to comply with GATK best practices — for results that are reproducible and clinically trusted.
Quality & reliability
Engineered to a quality standard
GenomSys Variant Discovery is built for reproducible, dependable results — with variant-calling pipelines that follow GATK best practices. The platform is developed and maintained under our ISO 13485 quality-management system.
Faster data upload
MPEG‑G native — sequencing data arrives smaller, transmits faster and is ready for analysis with no intermediate conversion.
No IT expertise required
Built for clinical geneticists, not engineers. Sign in, drop your file, and start interpreting.
Always up to date
Variant annotation evolves continuously — and so does GVD's curated database integration.
Who it's for
Built for the clinical bench
Designed around the daily reality of clinical geneticists and laboratory professionals — and the workflows of sequencing and genomic research centers running hereditary-disease diagnostics at scale.
Clinical geneticists
Reviewing variants for diagnostic and treatment-selection decisions.
Diagnostic laboratories
Running WES-based hereditary-disease panels in production.
Sequencing centers
Delivering downstream analysis as part of a broader genomic service.
Research institutes
Translating variant discoveries into clinical research workflows.