Details
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New Feature Request
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Resolution: Canceled
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Major
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None
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None
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None
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NIF
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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?