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Create an updated, fully transparent pipeline for data derived from ontologies

Open matentzn opened this issue 6 years ago • 2 comments

Creating a ticket here only for tracking purposes; details in the exomiser data audit doc. (assign @matentzn)

matentzn avatar May 09 '19 06:05 matentzn

Clarifying the subject of this issue: would this create a reproducible pipeline to create the data files used by exomiser? If so, it would help address #325 (the fact that data-version 1902 is not available for download at https://data.monarchinitiative.org/exomiser/ , so versions of exomiser >= 12.0.0 are not usable by external users who do not have access to these files).

bpow avatar Jul 10 '19 21:07 bpow

I am afraid these are only partially related; This ticket pertains to the specific input files that exomiser uses for phenotype - phenotype and phenotype - disease mappings, and in particular the phenodigm mappings..

matentzn avatar Jul 12 '19 15:07 matentzn