Variant Caller GUI and genetic disease analysis tool.

Documentation: https://robinandeer.gitbooks.io/puzzle/content/

$ pip install puzzle
$ wget http://bit.ly/puzzle-bosc
$ unzip puzzle-bosc && rm -r puzzle-bosc
$ puzzle view ./puzzle-demo

Puzzle will look for variant calling resources such as VCF files and GEMINI databases and visualize their contents. It lets you inspect, annotate, and analyze variant calls.

Puzzle is not primarily meant to be run as a persistent server but think of it more as an web interface to quickly spin up to visualize variant calls.

We set out to make Puzzle very simple to install and intuitive to use. You should be up and running in minutes with minimal prerequisites.

Puzzle is a Python Flask app with a command line interface. It works with multiple backends using plugins; raw VCFs, GEMINI, MongoDB.

Anyone can help make this project better - read CONTRIBUTING to get started!

To run the tests, you need pytest installed. You can install pytest together with the other development libraries by running pip install -r requirements-dev.txt.

You will also need to download the database used for testing, which you can do by executing this command:

$ wget https://s3-us-west-2.amazonaws.com/robinandeer/HapMapFew.db -O tests/fixtures/HapMapFew.db

To test a GEMINI database with structural variants do:

$ wget https://s3-us-west-2.amazonaws.com/robinandeer/HapMapSv.db -O tests/fixtures/HapMapSv.db

Then, just run py.test tests/

Puzzle uses the PED format to show more information in family view and in variant calls:

$ puzzle view tests/fixtures/hapmap.vcf --family_file tests/fixtures/hapmap.ped

Documentation is generated using Gitbook. Building the docs locally requires the GitBook CLI.

$ cd puzzle/
$ npm install -g gitbook-cli
$ gitbook serve ./docs

The documentation can now be viewed on http://localhost:4000/.

Puzzle Piece by Creative Stall from the Noun Project

MIT. See the LICENSE file for more details.