This project will compare methods for handling missing data in variant annotations for the purpose of building variant pathogenicity metapredictors.
See the research plan for a more detailed description.
To generate a PDF version with a working references section:
$ git clone https://github.com/blueprint-genetics/amiss.git
$ cd amiss/docs/research_plan
$ make
Pandoc and a LaTeX distribution must be installed.
This project conforms to the principles of open science:
- Open data:
- We use and reference publically available datasets and will citably archive any data and code we produce using Zenodo with a DOI
- Open source:
- The source code is freely available under the MIT license at GitHub
- Open notebook:
- You can follow development from the start on GitHub at https://github.com/blueprint-genetics/amiss
- The research plan is available in the GitHub repository (see section above for producing a PDF version)
- Open access:
- We will upload a preprint of the resulting paper(s) on biorXiv
- We will submit the results for publication in a peer-reviewed open access journal
- Open communication:
- We intend to present the results in public scientific conferences
- Open collaboration: