megSAP is a NGS data analysis pipeline for medical genetics, which is developed by the Institute of Medical Genetics and Applied Genomics and several collaborators from academia and industry. Since December 2016 the project is publicly available on GitHub, however closed-source development started already in 2012.

The design goals of the project are:

• state-of-the-art in terms of sensitivity/specificity,
• fast
• and usable for diagnostics:
  • we use no tools that require a license for diagnostics
  • extensive logging (tools, versions, parameters) ensures reproducability of results
  • extensive testing before adding/updating tools or databases makes sure the results are valid

If you are interested to join the effort, please contact Marc Sturm.

The installation of megSAP is quite time-consuming because many tools and big databases need to installed.
The installation instructions can be found here.

Note: Only GRCh38 is supported. There is a branch for GRCh37, but is is not updated or maintained since December 2021 anymore.

Documentation about the different analysis pipelines can be found here:

• DNA germline analysis (single sample)
• DNA germline analysis (multi-sample and trio)
• DNA somatic analysis (tumor-normal pair)
• DNA somatic analysis (tumor only)
• RNA analysis (expression)

Please report any issues or questions to the megSAP issue tracker.

Major changes of master since last release:

• none so far

For older changes see releases.