
GenomSys - GenomSys Variant Analyzer
GenomSys Variant Analyzer is a CE-marked platform natively operating on MPEG-G genomic data format that enables accurate variants identification, annotation, and interpretation (SNVs, indels, CNVs). Based on state-of-the-art pipelines and leveraging MPEG-G-specific features, GenomSys Variant Analyzer supports professionals in the diagnostic process and selecting treatment options. Our Variant Analyzer has been developed to address the customer’s accuracy, privacy, and usability requirements and can run both in cloud or server environments. The selective access enables to focus on required genetic targets without the need to access and analyzing the whole patient’s genomic data. The enhanced compression rate and native encryption provide an advantage for sequencing and genomic research centers.
GenomSys Variant Analyzer comes with an intuitive interface, providing professionals with a large set of easy-to-use yet powerful features including dynamic filtering options and Varsome’s human genetic variants database.
Carefully harmonized state-of-the-art bioinformatic software relying on the most updated genomic annotation provided by Varsome and nifty tools for variants filtering
GenomSys Variant Analyzer includes the fully integrated secondary and tertiary DNA analysis with an automated workflow for delivering reliable results in the new and more efficient MPEG-G format.
The GenomSys Variant Analyzer is CE marked as an in-Vitro Diagnostic Medical Device according to 98/79/CE directive and hence approved for clinical-grade diagnostic purposes.
GenomSys Variant Analyzer is designed to work in a cloud-based environment for an easy-to-use tool for geneticist running the analysis.
GenomSys Codec Suite is a collection of software tools to process genomic data compliant with ISO/IEC-23092 genomic data standard (MPEG-G). It is CE marked as an in-Vitro Diagnostic Medical Device according to 98/79/CE directive and hence approved for clinical-grade diagnostic purposes.
The tools enable organizations to implement the standard and leverage its benefits by encoding and decoding genomic data; providing source code examples, a comprehensive user manual, and additional software to transcode from/to legacy formats (to preserve past investments) and to integrate functionalities into existing applications and pipelines.
The key benefits of the unique MPEG-G standard are a single unified format, non-proprietary ISO standard, built-in security elements, significant size benefits, and dramatically faster data access time.
* The BAM file processed with samtools 1.11 using the commands ‘samtools sort -@ 4 -o , ‘samtools index -@ 4 , ‘samtools view -@ 4 -L -M -o output.sam’ for 27 regions of the CFTR gene. Sorting time for MPEG-G included in access time, as sorting is performed concurrently with data access (even though not strictly required by MPEG-G to index and perform random access). Selective access time including sorting and indexing time.
The non-proprietary ISO standard enables everyone to write its own interoperable code in a single unified format for all genomic-connected file types, providing independence from any company’s strategy or continuing support as well assuring the highest data integrity and interoperability.
The single unified format of MPEG-G reduces complexity for the genomic analysis of any organization handling large amounts of genomic datasets. In particular, this means that MPEG-G can take any combined information from the legacy formats FASTA, FASTQ, SAM/BAM or CRAM and have it included in one single file, each of them more efficiently compressed in MPEG-G.
The single file containing all the genomic information is prone to simplify the organization‘s internal processes along the analysis chain and supports a worldwide sharing of genomic data for research purposes in an easier way.
The new genomic standard addresses the need for a high level for genomic data privacy, protecting patients‘ utmost sensitive information. The built-in data protection includes consistent traceability and precise access control, as well as role segregation. GenomSys provides technology to increase data privacy of patients‘ DNA information.
The GenomSys Codec Suite is CE marked as an in-Vitro Diagnostic Medical Device according to 98/79/CE directive and hence approved for clinical-grade diagnostic purposes.