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    • R
      MIT License
      0103Updated Jan 7, 2025Jan 7, 2025
    • Clarity LIMS epp scripts
      Python
      MIT License
      0100Updated Jan 7, 2025Jan 7, 2025
    • Daemon to rsync data from HPC to bgarray
      Python
      MIT License
      0003Updated Dec 30, 2024Dec 30, 2024
    • DIMS

      Public
      Direct Infusion Mass Spectrometry pipeline
      Nextflow
      MIT License
      22110Updated Dec 30, 2024Dec 30, 2024
    • HapSMA

      Public
      Nextflow Oxford Nanopore Technologies workflow for SMA dataprocessing
      Nextflow
      MIT License
      0010Updated Dec 19, 2024Dec 19, 2024
    • Nextflow
      Other
      49001Updated Dec 18, 2024Dec 18, 2024
    • Utility scripts to work with Genologics Clarity LIMS
      Python
      MIT License
      0202Updated Dec 18, 2024Dec 18, 2024
    • Dx_tracks

      Public
      Verilog
      Other
      0221Updated Dec 18, 2024Dec 18, 2024
    • R
      0002Updated Dec 17, 2024Dec 17, 2024
    • GIABEval

      Public
      Genome-in-a-bottle evaluation tool to determine statistics
      Nextflow
      MIT License
      0001Updated Dec 12, 2024Dec 12, 2024
    • Genome Diagnostics Nextflow WES workflow
      Nextflow
      MIT License
      1660Updated Nov 22, 2024Nov 22, 2024
    • Resources used in diagnostics pipelines
      Python
      MIT License
      03151Updated Nov 15, 2024Nov 15, 2024
    • UMCU Genetics Nextflow modules
      Nextflow
      MIT License
      102702Updated Oct 25, 2024Oct 25, 2024
    • ExonCov

      Public
      ExonCov: Exon coverage statistics from BAM files
      Python
      MIT License
      3444Updated Oct 24, 2024Oct 24, 2024
    • Jupyter Notebook / Voila App for analysis and filtering of RNA-Seq data for clinical genetics diagnostics
      Jupyter Notebook
      MIT License
      2000Updated Sep 4, 2024Sep 4, 2024
    • NanoRCS

      Public
      NanoRCS: Multimodal genome-wide cfDNA sequencing and analysis
      Python
      GNU General Public License v3.0
      3000Updated Aug 30, 2024Aug 30, 2024
    • An R package for extracting mutational signatures from vcf files
      R
      GNU General Public License v3.0
      61040Updated Aug 26, 2024Aug 26, 2024
    • Scripts and files related to the SMN gene conversion manuscript
      MIT License
      0001Updated Jul 12, 2024Jul 12, 2024
    • Alissa Interpret Public API Client
      Python
      MIT License
      0001Updated Jul 2, 2024Jul 2, 2024
    • Clarity LIMS portal app
      Python
      MIT License
      0010Updated Jul 2, 2024Jul 2, 2024
    • 0000Updated Jul 1, 2024Jul 1, 2024
    • Python package for Franklin API
      MIT License
      0000Updated Jun 21, 2024Jun 21, 2024
    • DIMSdb

      Public
      database for Direct Infusion Mass Spectrometry pipeline
      MIT License
      0000Updated Jun 11, 2024Jun 11, 2024
    • Genome Diagnostics Nextflow WGS workflow
      Nextflow
      MIT License
      0020Updated Jun 11, 2024Jun 11, 2024
    • HTML
      MIT License
      0042Updated Jun 10, 2024Jun 10, 2024
    • vip

      Public
      Variant Interpretation Pipeline
      Shell
      GNU Lesser General Public License v3.0
      6002Updated Jun 6, 2024Jun 6, 2024
    • Minimal nf-core compatible workflow template.
      Nextflow
      MIT License
      0000Updated Jun 5, 2024Jun 5, 2024
    • Creative Commons Zero v1.0 Universal
      0400Updated Apr 7, 2024Apr 7, 2024
    • Repo with scripts to process fingerprint data.
      MIT License
      0000Updated Mar 8, 2024Mar 8, 2024
    • ONCODE_MC

      Public
      Course materials for Oncode Masterclass: Introduction to machine learning in cancer genomics on the 18th November 2020 by Jeroen de Ridder's group (UMC Utrecht) in collaboration with Lodewyk Wessel and Soufiane Mourragui (NKI).
      HTML
      Creative Commons Zero v1.0 Universal
      3102Updated Feb 1, 2024Feb 1, 2024