Fig. 1

Systematic literature search and validation approach. Flow diagram demonstrating the systematic literature search strategy starting with A broad Medline search including all potentially related articles. The search included several concepts related to GWAS, non-coding contexts and other related terms detailed in Additional file 1. B Using text-mining of article titles, abstracts and metadata, we built seven filters to narrow down the search results which excluded 35,222 articles. Exact search terms and their combinations used in the filters are provided in Additional file 2. C 1454 articles of interest that passed all the filters were manually screened and evaluated for eligibility. D Through manual curation an additional set of 579 articles was excluded. E 875 eligible articles that passed manual curation were annotated to identify key information from each study. F These articles proceeded to cross-referencing against the GWAS Catalog to ensure that the validated variants and their reported associated disease trait match known GWAS associations. G Cross-referencing excluded 598 articles with poor GWAS trait matches or no variant match. H The final systematic review includes 286 articles. Reasons for exclusion at each stage are shown in red on the right side and described in more detail in the main text