Closed apriltuesday closed 10 months ago
First renaming is not relevant any more as we've removed the gene from PGKB pending further analysis.
Also the functional consequence ID should be the SO term (SO_0001624
) rather than text (3_prime_UTR_variant
) as it currently is
See meeting minutes.
targetFromSourceId
tooriginalSourceGeneId
(gene from PGKB)variantOverlappingGeneId
totargetFromSourceId
(gene from VEP - consistent with ClinVar evidence)drugText
todrugFromSource
CHEBI_4792
,Orphanet_423
rather than full URIs)pgxCategory
- either use EFO or at least standardised strings (toxicity, efficacy, dosage, metabolism/PK, PD)Email OT team with final schema & example evidence (can link to test files)
Create preliminary documentation for what each field is and how it is generated.