Replacing genome variant annotation, filtering and interpretation software

Published

20 March 2026

Submission deadline

17 May 2026

Estimated value

€2,360,000

Procedure

open

Lots

1

Notice number

00193289-2026

Reference

33877bac-ba26-4891-992e-03f89ca69f61

Official source

Official source

CPV codes

• 48180000Paquetes de software médico

Description

Data from the sequencer is processed through a bioinformatics pipeline (currently GATK, soon transitioning to DRAGEN), which outputs all possible variants relative to the reference genome in tabular form in a VCF file. This VCF file is imported into the software, where annotation first takes place: all valid variants are separated from invalid variants based on quality parameters. Because this results in a large number of variants, they are subsequently filtered based on laboratory defined criteria, such as genomic position, population frequency, known pathogenicity based on literature or insilico prediction tools. All remaining variants must then be interpreted using various tools/databases. The software supports the use and visualisation of data from these tools, enabling fast and efficient interpretation — including through an AI tool that proposes the most likely causal variant for the disorder. software will be used by more or less 200 personel for diagnostics and research purposes. estimated value is based on 8 years

Frequently asked questions

What is the deadline to bid for this tender?

The submission deadline is 17 May 2026. Check the official source, as dates can be modified.

What is the estimated value of this tender?

The estimated value published by the buyer is €2,360,000.

Who is the buyer of this tender?

The contracting authority is Amsterdam UMC (European Union).