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Nederland - Medische software - Replacing genome variant annotation, filtering and interpretation software

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  1. Published
  2. Deadline open for 58 days
  3. Awarded pending

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

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Source: TED - Tenders Electronic Daily (Publications Office of the EU)

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Last verified against TED - Tenders Electronic Daily (Publications Office of the EU) 1 month ago

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  1. Act now
    • Title: "Nederland - Medische software - Replacing genome variant annotation, filtering a..." to "Nederland – Medische software – Replacing genome variant annotation, filtering a..."
    • Estimated value: Set to €2,360,000
    • Submission deadline: Moved 1 day EARLIER: now May 17, 2026, 00:00
    • Scope and criteria: The description was reworded. Re-read it before you bid.
    • Estimated value: Set to €2,360,000

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