ga4gh / vrs-hackathons

Project tracking for GA4GH Variation Representation Specification hackathons
Apache License 2.0
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VRS annotation of datasets in Hail #2

Open ahwagner opened 2 years ago

ahwagner commented 2 years ago

Submitter Name

Alex Wagner

Submitter Affiliation

Nationwide Children's Hospital

Submitter Github Handle

ahwagner

Additional Submitter Details

No response

Which event day would the project be offered?

Project Details

This project focuses on supporting methods for annotating datasets for query through Hail.

This project has two major aims:

  1. Development of methods / tools to support the annotation of gVCF files with VRS
  2. Import of gVCF files into Hail and perform queries on the VRS index

One possible dataset to test these methods on may be population frequency data from gnomAD. Other possible datasets should be proposed by the community on this project proposal thread.

Required Skills

Proficiency in Python, UNIX shell, and Docker will be beneficial towards code development for this project.

Documentation tasks are part of this project as well, and proficiency in restructured text, markdown, or other formats supported by readthedocs are beneficial for documentation contributions. Additional proficiency in Jupyter Notebooks will be beneficial for creating community-facing example workflows.