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  1. NIF
  2. NIF-11702

Curate disease attributes - genecity, somatic/germline, trait/disease

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    • New Feature Request
    • Resolution: Waiting For Info
    • Major
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    • NIF

    Description

      We need to curate some attributes of diseases/traits for Monarch. We ought to do this for all diseases in our Udisease ontology, but let's just start with OMIM, Decipher, and Orphanet diseases (in that order). Things we need to curate are:

      1. Whether or not the "thing" represents a disease or a trait.
      2. If it is a mono vs poly-genic disease. For example, if a mutation in a single gene causes a disease, it is monogenic; if a mutation occurs in multiple genes (like for many CNVs), it is polygenic. Some may be unknown. This can be seeded with a table of monogenic diseases from Peter's group, here: http://compbio.charite.de/hudson/job/hpo.annotations.monthly/lastSuccessfulBuild/artifact/annotation/diseases_to_genes.txt
      3. whether or not the disease is cause by somatic or germline variation. This one might be harder.

      This should be a curated dataset that lives in the monarch svn under annotations, until we find a good public home for it. Once we have enough annotations, we can move them into a public space, and I can load them into DISCO.

      Eventually, I would like some kind of Jenkins job that will notify us if there is a new disease identifier that needs to be curated.

      I am not sure how to capture the 'genecity' for variations that fall into non-coding regions, overlap genes on opposite strands, or have known modifiers (where a genetic interaction may affect severity of a disease). Perhaps these cases should be "Unknown".

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              nvasilevsky Nicole Vasilevsky
              nlw Nicole Washington
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