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Chunk #6 — MATERIALS AND METHODS — Ontology mapping

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CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies.
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We manually mapped the reported traits of included GWASs to Medical Subject Headings (MeSH) (23). To ensure the accuracy of trait mapping, we accounted for some auxiliary information within original studies and descriptions using MeSH terms. For UKBB cohort traits, we considered the descriptions in ICD10 (https://icd.who.int/browse10/2016/en) and related notes on UKBB Showcase. We also sought suggestions from the search function of MeSH (https://meshb.nlm.nih.gov/search). For example, let us consider the ICD10 term ‘insulin-dependent diabetes mellitus’ in UKBB; we searched this term in the MeSH Browser and got a match for ‘diabetes mellitus, type 1.’ For non-UKBB cohort traits, we took into account the Abstract and list of suggested MeSH terms on PubMed. For example, the reported trait of a recent GWAS was ‘primary sclerosing cholangitis’ (24); ‘cholangitis, sclerosing’ was determined to be the relevant MeSH term on PubMed. Therefore, an exact match could be determined. CAUSALdb presents a tree of traits that has the same architecture as Tree View in the MeSH Browser (https://meshb.nlm.nih.gov/treeView).