Repositories list

• warpy

  Public
  A port of the core elements of the nf-core/wf-human-variation nanopore pipeline to bpipe

  Shell

  •

  Mozilla Public License 2.0

  •2•0•1•0•Updated Feb 12, 2025Feb 12, 2025

• Jasmine

  Public
  Jasmine: SV Merging Across Samples

  Java

  •

  MIT License

  •18•0•0•0•Updated Feb 10, 2025Feb 10, 2025

• seqr-loading-pipelines

  Public
  hail-based pipelines for annotating variant callsets and exporting them to elasticsearch

  Python

  •

  MIT License

  •20•0•0•0•Updated Feb 2, 2025Feb 2, 2025

• seqr

  Public
  web-based analysis tool for rare disease genomics

  Python

  •

  GNU Affero General Public License v3.0

  •89•2•0•0•Updated Feb 2, 2025Feb 2, 2025

• panelapp

  Public
  Python

  •

  Apache License 2.0

  •0•0•0•0•Updated Jan 29, 2025Jan 29, 2025

• panelapp-infra

  Public
  HCL

  •0•0•0•0•Updated Jan 21, 2025Jan 21, 2025

• StrVCTVRE

  Public
  StrVCTVRE, a structural variant classifier for exonic deletions and duplications

  Jupyter Notebook

  •

  MIT License

  •6•0•0•0•Updated May 28, 2024May 28, 2024

• mitoreport

  Public
  Interpretation software for mitochondrial variants

  Vue

  •1•3•1•0•Updated May 22, 2024May 22, 2024

• tagmesh

  Public
  Vue

  •

  Other

  •0•0•0•0•Updated May 21, 2024May 21, 2024

• docker-openresty

  Public
  Docker tooling for OpenResty

  Dockerfile

  •

  BSD 2-Clause "Simplified" License

  •532•0•0•0•Updated May 21, 2024May 21, 2024

• Clair3

  Public
  Clair3 - Symphonizing pileup and full-alignment for high-performance long-read variant calling

  Python

  •31•0•0•0•Updated Jan 15, 2024Jan 15, 2024

• sandbox

  Public
  sandbox - play area

  MIT License

  •0•0•0•0•Updated Jul 8, 2022Jul 8, 2022