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    • Python
      BSD 3-Clause Clear License
      1000Updated Nov 6, 2024Nov 6, 2024
    • Testing building mulled containers for multi-requirement tools.
      221000Updated Oct 27, 2024Oct 27, 2024
    • Java utilities for Bioinformatics
      Java
      Other
      133000Updated Sep 18, 2024Sep 18, 2024
    • Repository to host tool-specific module files for the Nextflow DSL2 community!
      Nextflow
      MIT License
      718000Updated Jun 11, 2024Jun 11, 2024
    • Automated Docker builds for bcbio
      Dockerfile
      MIT License
      4000Updated Mar 23, 2024Mar 23, 2024
    • Nextflow
      Other
      45000Updated Mar 19, 2024Mar 19, 2024
    • Nextflow
      Other
      13000Updated Mar 19, 2024Mar 19, 2024
    • Copy number variant detection from targeted DNA sequencing
      Python
      Other
      166000Updated Mar 1, 2024Mar 1, 2024
    • Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)
      Apache License 2.0
      0000Updated Jan 10, 2024Jan 10, 2024
    • nanoseq

      Public
      Nanopore demultiplexing, QC and alignment pipeline
      Nextflow
      MIT License
      80000Updated Nov 29, 2023Nov 29, 2023
    • paraphase

      Public
      HiFi-based caller for highly homologous genes
      Python
      BSD 3-Clause Clear License
      5000Updated Nov 9, 2023Nov 9, 2023
    • WisecondorX — An evolved WISECONDOR
      Python
      Other
      65000Updated Jun 28, 2023Jun 28, 2023
    • pgsc_calc

      Public
      The Polygenic Score Catalog Calculator is a nextflow pipeline for polygenic score calculation
      Nextflow
      Apache License 2.0
      21000Updated Apr 19, 2023Apr 19, 2023
    • varsim

      Public
      VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications
      Java
      BSD 2-Clause "Simplified" License
      31000Updated Apr 7, 2023Apr 7, 2023
    • Utilities for working with PGS Catalog API and scoring files
      Python
      Apache License 2.0
      3000Updated Mar 31, 2023Mar 31, 2023
    • SOP for PRS calculation using CanRisk
      MIT License
      2000Updated Mar 14, 2023Mar 14, 2023
    • CloudBioLinux: configure virtual (or real) machines with tools for biological analyses
      Python
      MIT License
      158000Updated Nov 4, 2021Nov 4, 2021
    • This repository contains chromosome/contig name mappings between UCSC <-> Ensembl <-> Gencode for a variety of genomes.
      MIT License
      59000Updated Sep 20, 2021Sep 20, 2021
    • iem

      Public
      Configuration files for the Illumina Experiment Manager
      Apache License 2.0
      0100Updated Aug 1, 2021Aug 1, 2021
    • black

      Public
      The uncompromising Python code formatter
      Python
      MIT License
      2.5k000Updated Jul 5, 2021Jul 5, 2021
    • jannovar

      Public
      Java library for annotating VCF files with gene/transcript-based annotations
      Java
      Other
      35000Updated Jun 6, 2021Jun 6, 2021
    • 🏭 A Chrome / Firefox extension for visualizing PlantUML code.
      TypeScript
      Apache License 2.0
      33100Updated Jan 24, 2021Jan 24, 2021
    • Plugins for the Ensembl Variant Effect Predictor (VEP)
      Perl
      Apache License 2.0
      116000Updated Jul 3, 2020Jul 3, 2020
    • mosdepth

      Public
      fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
      Nim
      MIT License
      100000Updated Jun 23, 2020Jun 23, 2020
    • Validated, scalable, community developed variant calling, RNA-seq and small RNA analysis
      Python
      MIT License
      354000Updated May 8, 2020May 8, 2020
    • Shell
      7100Updated Mar 11, 2020Mar 11, 2020
    • C4-PlantUML combines the benefits of PlantUML and the C4 model for providing a simple way of describing and communicate software architectures
      MIT License
      1.1k000Updated Oct 26, 2019Oct 26, 2019
    • PharmCAT

      Public
      The Pharmacogenomic Clinical Annotation Tool
      Java
      Mozilla Public License 2.0
      40000Updated Aug 15, 2019Aug 15, 2019
    • hgvs

      Public
      Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
      Python
      Apache License 2.0
      94000Updated Jun 27, 2019Jun 27, 2019
    • The OWASP Cheat Sheet Series was created to provide a concise collection of high value information on specific application security topics.
      Python
      Other
      3.9k000Updated May 6, 2019May 6, 2019