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    57 repositories

    • nf-cavalier

      Public
      Nextflow Pipeline for singleton and family based candidate variant prioritisation based on gene lists using the Cavalier R package. This pipeline is a work in p…
      Nextflow
      •3•0•0•0•Updated Apr 16, 2026Apr 16, 2026

    • Edi-Set-Flow

      Public
      Nextflow pipeline for detection, annotation and analysis of RNA editing
      Nextflow
      •
      MIT License
      •1•2•0•0•Updated Apr 7, 2026Apr 7, 2026

    • cavalier

      Public
      cavalier: Candidate Variant List Evaluation Report
      R
      •1•4•0•0•Updated Mar 25, 2026Mar 25, 2026

    • Genes4Epilepsy

      Public
      A curated list of monogenic epilepsy genes
      HTML
      •1•16•0•0•Updated Mar 13, 2026Mar 13, 2026

    • superSTR

      Public
      A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.
      C
      •
      GNU General Public License v2.0
      •8•18•10•8•Updated Jan 16, 2026Jan 16, 2026

    • EH5_kmerfilter

      Public
      k-mer based filtering of ExpansionHunter 5 BAMs
      Python
      •2•0•0•0•Updated Dec 4, 2025Dec 4, 2025

    • GeneSetPheno

      Public
      GeneSetPheno is a user-friendly graphical interface application designed to integrate, summarize, and visualize gene and variant-phenotype associations across g…
      R
      •
      MIT License
      •0•4•1•0•Updated Nov 18, 2025Nov 18, 2025

    • AmpSeqR

      Public
      Multi-locus Sequence Type Identificatino from Multiplexed Amplicon Deep Sequencing
      R
      •
      GNU General Public License v3.0
      •1•4•4•0•Updated Oct 9, 2025Oct 9, 2025

    • UKB.COVID19

      Public
      UKB.COVID19 — UK Biobank COVID-19 Data Processing and Risk Factor Association Tests.
      HTML
      •0•0•0•0•Updated Sep 1, 2025Sep 1, 2025

    • mitoCN

      Public
      Estimate mitochondrial DNA copy number from whole genome sequencing data
      R
      •
      MIT License
      •2•3•1•0•Updated Jul 23, 2025Jul 23, 2025

    • PD_repeat_expansions

      Public
      Code for manuscript: Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts
      R
      •0•0•0•0•Updated Jun 5, 2025Jun 5, 2025

    • telseq

      Public
      A software for calculating telomere length
      C++
      •
      GNU General Public License v3.0
      •29•0•0•0•Updated Mar 24, 2025Mar 24, 2025

    • TBtypeR

      Public
      Mycobacterium tuberculosis mixture detection and strain typing from WGS data
      R
      •
      MIT License
      •0•4•0•0•Updated Mar 14, 2025Mar 14, 2025

    • FoundHaplo

      Public
      An R package to detect individuals with disease-causing variants by performing likelihood of Identity by descent between pairs of individuals from SNP genotypin…
      R
      •
      GNU General Public License v3.0
      •0•2•0•0•Updated Feb 22, 2025Feb 22, 2025

    • retinalThicknessGWAS

      Public
      Retinal Thickness phenotype cleaning and GWAS workflow
      R
      •0•2•0•0•Updated Nov 22, 2024Nov 22, 2024

    • mixSTR

      Public
      Searching for read pairs containing mixed-motif STR expansions from complex repeat structures
      Python
      •0•1•0•0•Updated Nov 5, 2024Nov 5, 2024

    • GEFS-PRS-manuscript

      Public
      Code for statistical analyses and plots relevant to manuscript
      R
      •0•0•0•0•Updated Sep 20, 2024Sep 20, 2024

    • PanRank

      Public
      JavaScript
      •0•0•0•0•Updated Aug 26, 2024Aug 26, 2024

    • bahlolab.github.io

      Public
      Ruby
      •0•0•1•8•Updated Aug 7, 2024Aug 7, 2024

    • Implementing-EraSOR-

      Public
      Code for analyses performed as part of Ellis CA, Oliver KL et al. manuscript
      Shell
      •0•0•0•0•Updated May 21, 2024May 21, 2024

    • amdrpd_viewer

      Public
      data viewer for amd rpd cohort
      R
      •0•0•0•0•Updated Mar 6, 2024Mar 6, 2024

    • linkdatagen-manual

      Public
      LINKDATAGEN Manual in Quarto
      TeX
      •
      Other
      •0•0•1•0•Updated Feb 28, 2023Feb 28, 2023

    • ggwehi

      Public
      Colour scales for ggplot2 based on the WEHI colour palette
      R
      •1•3•0•0•Updated Feb 27, 2023Feb 27, 2023

    • Bio-STR-exSTRa

      Public
      Prepare BAM/CRAM for exSTRa R package
      Perl
      •1•6•5•1•Updated Feb 17, 2023Feb 17, 2023

    • exSTRaDevelopment

      Public
      Expanded STR algorithm to detect repeat expansions in Illumina next-generation sequencing data
      R
      •
      GNU General Public License v3.0
      •0•0•0•0•Updated Nov 25, 2022Nov 25, 2022

    • exSTRa

      Public
      Expanded STR algorithm for Illumina sequencing data
      R
      •
      GNU General Public License v2.0
      •8•23•13•0•Updated Sep 11, 2022Sep 11, 2022

    • linkdatagen

      Public
      Perl
      •
      GNU General Public License v2.0
      •0•4•6•0•Updated Sep 7, 2022Sep 7, 2022

    • seqr

      Public
      web-based analysis tool for rare disease genomics
      Python
      •
      GNU Affero General Public License v3.0
      •94•0•0•0•Updated Sep 6, 2022Sep 6, 2022

    • docker-Bio-STR-exSTRa

      Public
      Docker build for the Perl module Bio::STR::exSTRa
      Dockerfile
      •
      MIT License
      •1•1•0•0•Updated Aug 6, 2022Aug 6, 2022

    • PLASTER

      Public
      Nextflow pipeline for long amplicon typing of PacBio SMRT sequencing data
      R
      •
      MIT License
      •3•2•0•0•Updated May 17, 2022May 17, 2022
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