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Fig. 5 | BMC Medical Genomics

Fig. 5

From: The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

Fig. 5

Studies utilize multiple avenues in validating non-coding variants. Using text-mining of abstracts and metadata, we examined the utilization of different avenues for non-coding variant validation across 286 included articles. The six broad categories were gene expression, reporter assays, transcription factor binding, in vivo or animal models, genome editing, and chromatin interaction. The intersection size denotes the number of articles that have the combination of validation categories below it. The color denotes the number of avenues used; pink – 6, orange—5, green—4, black—3, blue—2, red—1. The upset plot shows the overlap of the variant validation avenues and the number of articles. The Set size bars on the right reflect the total number of studies that used/employed each of the categories

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