GenomSys MPEG-G Genomic Platform

The GenomSys MPEG-G Genomic Platform is a unique multi-infrastructure genomic platform fully compliant with ISO/IEC 23092 (MPEG-G), the only ISO open standard for genomic data. Designed for organizations handling large volumes of genomic data — including clinical laboratories, diagnostics providers, research institutions, and consumer genomics businesses — the platform reduces storage needs by up to 70%, speeds data transmission and analyses, facilitates data reuse, and accelerates time to market for advanced genomic applications. All of GenomSys' vertical applications are built on top of this core platform to deliver efficient and scalable solutions.

GenomSys is an ISO 13485 certified manufacturer of software for medical devices, and its key products carry CE marking as in-vitro diagnostic medical devices, making them approved for clinical-grade diagnostic purposes. The platform and its applications can be deployed in cloud, server, or on-premise environments and are compatible with both Linux and Windows operating systems.

Core Platform Capabilities

• MPEG-G standard compliance: All platform components natively use the ISO/IEC 23092 MPEG-G standard, enabling a single unified syntax throughout the entire genomic analysis workflow and eliminating format lock-in.
• Lossless compression: Compression rates are up to 5–6 times higher than legacy formats. For example, a whole exome sequencing (WES) file is reduced to 2.74 GB in MPEG-G compared to 11.48 GB in FASTQ gzipped format, generating significant savings in storage space and bandwidth.
• Selective access: Genomic file preprocessing is cut to zero, saving at least 89% of accessing time for any desired genomic interval, enabling rapid and targeted retrieval of data.
• Single unified file format: A single MPEG-G file can contain multiple data types used in genomic analysis — including raw and aligned sequences, genome assemblies, and metadata — assuring full data integrity.
• Metadata integration: Laboratory metadata such as references to reagents, sequencers, analysis software, annotation databases, and variant reports can be embedded within the same genomic file, enabling consistent audit trails and integration with clinical information.
• Built-in data protection: The standard addresses the need for high-level data privacy through native encryption, consistent traceability, precise access control, and role segregation.
• Interoperability: Lossless transcoding into and from MPEG-G ensures that previous investments in existing formats are not made obsolete.
• EHR integration readiness: MPEG-G's structure is designed to serve as a docking point for standard clinical data linkage, enabling genomic testing data — such as variant reports — to be incorporated into electronic health records.
• Population genomics support: The high compression, hierarchical structure, and selective access capabilities of MPEG-G are particularly beneficial for population-wide genomic research involving comparison of multiple large datasets.

GenomSys MPEG-G Toolkit (GMTK)

• A collection of software tools for processing genomic data compliant with the ISO/IEC 23092 MPEG-G standard.
• Enables genomic data conversion to and from MPEG-G, incorporating raw and aligned sequencing data, genome assemblies, and metadata into a single highly compressed file.
• Provides direct connection with sequencing machine output to accelerate the transfer of raw genomic data to analysis pipelines.
• Offers tight integration with GenomSys' secondary analysis module for streamlined data compression, upload, and processing.
• Delivers benefits to multiple stakeholders, including reduced waiting time for geneticists due to faster upload and processing, and lower IT costs through reduced bandwidth and storage requirements.
• CE marked as an in-vitro diagnostic medical device and approved for clinical-grade diagnostic purposes.
• Runs on both Linux and Windows operating systems.

GenomSys Variant Analyzer (GVA)

• A CE-marked, user-friendly, end-to-end solution for hereditary disease diagnostics, designed to support geneticists in their daily clinical genomic analysis.
• Covers the full analysis pipeline including alignment, variant calling (SNVs, InDels, CNVs), and variant annotation, fully automated for clinical exome sequencing (CES) and whole exome sequencing (WES) analysis.
• Runs natively on MPEG-G data, enabling fast data upload, reduced genomic file sizes, rapid data access, selective access to target regions, native encryption, and high interoperability.
• Includes a fully integrated secondary and tertiary analysis workflow with an intuitive interface and a large set of dynamic filtering options, requiring no onboarding or IT expertise.
• Supports automated trio exome analysis with intuitive inheritance pattern-based filters and simultaneous visualization of variants from multiple samples for familial analysis.
• Delivers reliable variant annotation through integration with curated scientific databases provided by Varsome.
• Can run in a cloud environment accessible via a web interface, or be installed on-premise upon request.

GenomSys Blood Typer

• A first-of-its-kind software for the characterization of blood groups based on data generated by Next-Generation Sequencing (NGS) assays, aligned with the latest developments at the International Society for Blood Transfusion (ISBT).
• Combines cutting-edge immunogenetics and bioinformatics with the MPEG-G standard to boost automation of blood group trait detection for transfusion medicine applications.
• Enables high-throughput typing of multiple individual donors in parallel, with results accessible via a user-friendly web dashboard or detailed downloadable reports.
• Substitutes multiple serology and array-based tests with a single comprehensive genomic analysis of NGS data, delivering results with minimal manual work.
• Currently capable of characterizing blood for more than 36 blood group systems, with the ability to be extended as new scientific evidence becomes available.

GenomYou App — Mobile-Optimized Consumer Genomics Platform

• A first-of-its-kind connected mobile platform enabling consumer-oriented businesses to provide personalized genomic services to their customers via a secure digital channel.
• Leverages MPEG-G benefits to allow any smartphone to serve as a secure container for an individual's genomic data, guaranteeing the highest level of privacy and security.
• Enables genomic analyses to be run directly in-app, or for more complex analyses, allows ordering and report delivery within the app.
• Supports the entire customer journey — from ordering a genetic test, to running specific analyses, to purchasing products or services based on test results — within a single digital environment.
• Applicable beyond human genomics, including analyses and services for animals and plants.

GenomSys also offers an enterprise-grade cloud platform into which third-party NGS analysis tools can be integrated, enabling partners to reach the market or scale faster while maintaining quality standards. GenomSys is certified according to the ISO 13485 Quality Management System, ensuring the highest quality standards across all deployments. The company operates internationally with offices in Switzerland and Italy, including a dedicated MPEG-G Competence Center in Milan.