Replacement of genome variant annotation, filtering and interpretation software

Summary

The tender concerns the replacement of software for genome variant annotation, filtering and interpretation as a medical software package. The software will be used by about 200 staff for diagnostics and research and must support importing VCF data from a bioinformatics pipeline, separating valid variants by quality, filtering them against laboratory criteria, and interpreting the remaining variants using tools and databases. The machine-readable notice did not include precise qualification, suitability or exclusion requirements; these must be checked in the tender documents.