There is a newer version of the record available.

Published March 19, 2025 | Version 2025_03
Software Open

imgag/ngs-bits: 2025_03

Authors/Creators

  • 1. Institute of Medical Genetics and Applied Genomics
  • 2. Institut für Medizinische Genetik und Angewandte Genomik
  • 3. @GC-HBOC @imgag
  • 4. University of Tübingen
  • 5. @MHH-Humangenetik
  • 6. Avera Cancer Institute

Description

Changes:

  • added tools: TrioMendelianErrors
  • NGSD:
    • Added urgent flag to processed_sample table
  • BedAnnotateFreq: added -long_read flag for long-read support
  • BedpeAnnotateCounts: added annotation of counts and allele frequency grouped by disease group (see NGSDExportSV)
  • NGSDAddVariantsSomatic: added support for importing tumor-only variant lists
  • NGSDExportSV: added export of SVs grouped by disease group (see BedpeAnnotateCounts)
  • RohHunter: added support for exclude regions and added parameter for maximum percentage of heterozygous markers in ROH regions.

Full Changelog at: https://github.com/imgag/ngs-bits/compare/2025_01...2025_03

Note: Please do not use the auto-generated 'Source code' packages - they will not work!

Files

imgag/ngs-bits-2025_03.zip

Files (199.9 MB)

Name Size Download all
md5:d34e26b39964a5c7281d6030089d70ff
199.9 MB Preview Download

Additional details

Related works

Is supplement to
Software: https://github.com/imgag/ngs-bits/tree/2025_03 (URL)

Software

Repository URL
https://github.com/imgag/ngs-bits