Prioritizing and characterizing functionally relevant genes across human tissues
Fig 3
FUGUE validation and application to trait-tissue mapping.
(A) In 6 tissues where the trait is unambiguously mapped to the tissue based on mouse knockout, the tissue-relevant genes are ranked significantly higher (y-axis) than the random expectation. (B) Essential genes in human iPSCs are ranked much higher than random expectation; here the model was trained on GTEx and applied to iPSC, minimizing overfitting. (C) Pipeline to map GWAS genes to specific tissues based on the overlap of GWAS genes with the top ranked genes by FUGUE or by Z-score. (D) A few examples of trait-tissue mapping uniquely revealed by FUGUE. The trait oval indicates the number of GWAS genes, the tissue oval indicates the top 10% TRGs and a couple of top ranked genes associated to the trait are highlighted. These genes have direct literature evidence for involvement with the trait.