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
Aankondiging van een opdracht (2026-03-18) Object Toepassingsgebied van de aanbesteding
Titel: Replacing genome variant annotation, filtering and interpretation software
Reference number: Rd
Korte beschrijving:
“Data from the sequencer is processed through a bioinformatics pipeline (currently GATK, soon transitioning to DRAGEN), which outputs all possible variants...”
Korte beschrijving
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
Toon meer
Soort contract: supplies
Producten/diensten: Medische software📦
Geschatte waarde exclusief BTW: 2360000.0 EUR 💰
Beschrijving
Beschrijving van de aanbesteding:
“Data from the sequencer is processed through a bioinformatics pipeline (currently GATK, soon transitioning to DRAGEN), which outputs all possible variants...”
Beschrijving van de aanbesteding
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
Toon meer
Hoofdlocatie of plaats van uitvoering:
“Amsterdam”
Duur: 96 (MONTH)
Het onderstaande tijdschema is uitgedrukt in aantal maanden.
Informatie over opties
Opties ✅
Beschrijving van de opties:
“During the entire term of the agreement, additional services or cutting‑edge applications may become part of the agreement and can be added to the deliverables.”
Beschrijving van de opties
During the entire term of the agreement, additional services or cutting‑edge applications may become part of the agreement and can be added to the deliverables.
Toon meer Gunningscriteria
Kwaliteitscriterium (naam): Annex I9b Program of Requirements Functional and list of wishes
Kwaliteitscriterium (weging): 28
Kwaliteitscriterium (naam): Usecases
Kwaliteitscriterium (weging): 42
Prijs ✅
Prijs (weging): 30
Titel
Identificatienummer van de partij: LOT-0000
Procedure Soort procedure
Open procedure ✅ Administratieve informatie
Termijn voor de ontvangst van inschrijvingen of verzoeken tot deelneming: 2026-05-11 12:00:00 📅
Voorwaarden voor de opening van de offertes: 2026-05-18 13:00:00 📅
Talen waarin inschrijvingen of aanvragen tot deelneming kunnen worden ingediend: Nederlands 🗣️
Minimumtermijn gedurende welke de inschrijver de offerte gestand moet doen: 6
Juridische, economische, financiële en technische informatie Voorwaarden voor deelname
Rechtsvorm van de combinatie van ondernemers aan wie de opdracht wordt gegund:
“Combination statement”
Aanvullende informatie Herzieningsprocedure
Precieze informatie over de termijn(en) voor herzieningsprocedures:
“20” Informatie over elektronische workflows
Elektronische facturering wordt aanvaard
Bron: OJS 2026/S 055-191963 (2026-03-18)
Aankondiging van een opdracht (2026-03-19) Object Toepassingsgebied van de aanbesteding
Geschatte waarde exclusief BTW: 2360000.0 EUR 💰
Procedure Administratieve informatie
Termijn voor de ontvangst van inschrijvingen of verzoeken tot deelneming: 2026-05-17 23:59:00 📅
Voorwaarden voor de opening van de offertes: 2026-05-18 09:00:00 📅