We are happy to let you know that we have just released the latest version of our CE-marked software GenomSys Variant Analyzer to support you and your team in the analysis of genetic data.
The new release includes and will provide you with the following features:
- Trio- and pair-exome analysis with inheritance pattern-based filters for variants
- User-specific internal allele frequency database with filters, and the possibility to set variants-specific notes (e.g., “pathogenic”, “artifact”, etc.)
- ClinVar ID with a hyperlink to https://www.ncbi.nlm.nih.gov/clinvar/variation/
- OMIM ID with a hyperlink to https://www.omim.org/entry/
- HPO phenotypic terms with hyperlink to https://hpo.jax.org/app/browse/term/
- dbSNP with a hyperlink to https://www.ncbi.nlm.nih.gov/snp/
- Inheritance pattern with filters
- Possibility to save custom filter sets for variants, coverage, and CNVs
- Warning for low quality of the data in the QC section
GenomSys Variant Analyzer is a CE-marked and user-friendly end-to-end solution for hereditary disease diagnostics. It supports and speeds up the analysis process for clinical professionals.
Covering the alignment, variant calling (SNVs, InDels, CNVs), and variant annotation, it is fully automated for CES and WES analysis and runs natively on the highly efficient ISO standard MPEG-G. It delivers reliable results upon which professionals can build their own interpretation.
The software can run both in cloud or server environments and enables full leverage of MPEG-G benefits: fast data upload, reduced genomic files, rapid data access and selective access to target regions, native encryption, and a high level of interoperability.
Interested in GenomSys Variant Analyzer and how it can support you in your analysis?Request a trial now!