Published October 15, 2025
| Version 2025_10
Software
Open
imgag/megSAP: 2025_10
Authors/Creators
- Marc Sturm1
- Jakob Admard
- Leon Schütz
- Axel Gschwind2
- Alexander Ott
- c-schroeder
- Benedikt Schnur3
- KilianIlius
- Tim Stohn
- Ersoy Kocak4
- Alexander Seitz
- Francesc Muyas
- Alexander Peltzer5
- Lennard Berger
- Alexandr Chernov
- Paul-Christian Volkmer
- Tobias Meissner6
- Institute of Medical Genetics and Applied Genomics
- Jan
- Marc Schindler7
- Marc Sturm
- 1. Institute of Medical Genetics and Applied Genomics
- 2. Institut für Medizinische Genetik und Angewandte Genomik
- 3. @MHH-Humangenetik
- 4. PhD Student at Central Institute of Mental Health
- 5. Boehringer Ingelheim
- 6. Avera Cancer Institute
- 7. Red Hat GmbH
Description
What's new
- General changes
- Updated databases and several tools
- Note that way more transcripts are contained in Ensembl 115. See https://www.ensembl.info/2025/02/14/cool-stuff-ensembl-vep-can-do-reduce-the-number-of-human-transcripts-you-need-to-consider-without-missing-results/ and https://www.ensembl.info/2025/09/02/ensembl-115-has-been-released/.
- added support for
singularityin addition toapptainer - updated OS in tool containers to Ubuntu 24.04
- Illumina DRAGEN
- simpifiled file handling: renaming files is not longer necessary. Just copy the DRAGEN output into the
dragensub-folder of a processed sample folder. - added multi-version installation support by specifying the DRAGEN version in the megSAP settings. Note: only DRAGEN 4.3 is supported right now.
- removed settings parameter 'use_dragen_sv_calling': Using DRAGEN SV files when they are available because they are way better than Manta (see performance page).
- added support for ORA as input for DRAGEN
- simpifiled file handling: renaming files is not longer necessary. Just copy the DRAGEN output into the
- ensure consistent fallback to data_folder when local_data copy is missing/incomplete
- Updated databases and several tools
- germline WES/WGS:
DeepVariantis now the default caller for small variants (wasfreebayesbefore)
- germline lrGS:
- added
Clair3GPU support - updated
Straglrto version 1.5.4 - improved PacBio support
- added
- germline RNA:
- updated
arribato version 2.5.1
- updated
- somatic tumor-only:
- renamed the pipeline script to
somatic_tumor_only.php - improved sensitivity for low AF variants and runtime
- renamed the pipeline script to
- somatic tumor-normal:
- renamed the pipeline script to
somatic_tumor_normal.php - added support for WGS
- renamed the pipeline script to
Full Changelog: https://github.com/imgag/megSAP/compare/2025_03...2025_10
Files
imgag/megSAP-2025_10.zip
Additional details
Related works
- Is supplement to
- Software: https://github.com/imgag/megSAP/tree/2025_10 (URL)
Software
- Repository URL
- https://github.com/imgag/megSAP