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  1. NIF
  2. NIF-11638

DISCO: import phenotype-related variation data from ensembl

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    • NIF
    • Issues closed as MONARCH has transitioned from UCSD services

    Description

      Pull all variation data from ensembl, with a preference for the phenotype-related variants. This data is needed in order to build a geno-pheno browser.

      Note that the phenotypes in ENSEMBL are only text-based, with no identifiers, and will need to somehow be mapped. It looks like the labels are simply the OMIM ids, but probably can be mapped to the uber-disease id whenever it is finally ingested by ontoquest.

      This can be achieved with the Variation API:

      http://uswest.ensembl.org/info/docs/api/variation/variation_tutorial.html#connect

      making a file with the ph_variants variation set:
      http://uswest.ensembl.org/info/docs/variation/data_description.html#variation_sets

      Make sure to get the following:
      1. genomic locations (to feed to jbrowse)
      2. phenotype
      3. any genes linked
      4. synonyms
      5. evidence trail?

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              nlw Nicole Washington
              nlw Nicole Washington
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