Closed d0choa closed 2 years ago
I made a pass on a subset of trait-mappings from SAIGE or NEALE that could be updated.
I propose to include every row in the next spreadsheet with either the current or the alternative EFO as specified by booleans (checkbox)
https://docs.google.com/spreadsheets/d/1PotmUEirkV36dh-vpZ3GgxQg_LcOefZKbyTq0PNQ6NY/edit?usp=sharing
This work was completed in 22.09
Since the last time when UKBB GWAS studies were mapped to EFO, the ontology has suffered significant changes. The most notable the dynamic imports of some other ontologies (MONDO, HP, etc.). Due to this changes, more terms are available sometimes better reflecting the GWAS trait than the original mapping. For example, the trait
Bursitis
(SAIGE_726_3) was mapped tofrozen shoulder
(EFO_1000941), when there is abursitis
term available in EFO (MONDO_0002471).Next a subset (top20) of studies that were automatically suggested as potential improvements: