EBIvariation / opentargets-pharmgkb

Pipeline to provide evidence strings for Open Targets from PharmGKB
Apache License 2.0
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Add counts and fix bugs from test run #13

Closed apriltuesday closed 1 year ago

apriltuesday commented 1 year ago

Counts from test run (note VEP gene/consequence annotation counts are lowered as there are known issues in how we get variant coordinates to query VEP):

Total clinical annotations: 5073
        With RS: 4477
Exploded by allele: 13497
Exploded by drug: 18830
Exploded by phenotype: 23086
Total evidence strings: 25475
        With CHEBI: 21205
        With EFO phenotype: 6830
        With functional consequence: 22891
        With VEP gene: 22891
Gene comparisons per annotation
        With PGKB genes: 4220
        With VEP genes: 4059
        PGKB genes != VEP genes: 811