1.0 First Stable Release of Mendel,MD!


This can be considered the first stable release of Mendel,MD on Github.

You just need a VCF file from b37/hg19 as an input and you can start already diagnosing patients for the 4,974 Mendelian Disorders currently present at OMIM and CGD. https://www.omim.org/statistics/entry.

I now plan to create a new branch and start updating the system to work on the following next things:

  • Improving the docs,
  • Add JsonB support
  • Add integration with GEMINI and Oncotator
  • Upgrade the version of all existing libraries and tools and specially Django.
  • Homomorphic Encryption of the Genomes.

Support for hg38 VCFs and CNV Analysis is coming.
Considering adding BAM/CRAM support as well.

This system was tested and deployed on Ubuntu 16.04 LTS and CentOS/RedHat 7 using PostgreSQL 9.4-9.6.

The easiest way to get it up and running is using Docker Compose command:

docker-compose up

You can also deploy it locally using the instructions at the docs in any UNIX machine, you will need at least 60GB during installation and 30GB only at the end.