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Fig. 5 | Laboratory Animal Research

Fig. 5

From: Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center

Fig. 5

Overview of the strategy for phenome-wide association study in RIKEN BRC. a Overview of generation of high-quality association rules using phenotype data from IMPC. We used IMPC release 4.3 dataset contains approximately 18,000,000 data points for 2050 parameters. We made a call table of normal/abnormal phenotypes with 532 phenotypes for 3100 mutant strains (genes) by the data processing of ontology-based reduction of semantic overlaps for parameters. 3686 relationships (association rules) were obtained by the association rule mining analysis. b For evaluation and understanding of the relationships, we defined a set of PPAPs as a module of phenotypic expression for each of the 345 phenotypes. Upper panel shows a schematic diagram of PPAP in which a phenotype associated to other phenotype with statistical weight of association. Lower panel shows data representation in the web application (https://brc-riken.shinyapps.io/phenotypic_associations_across_the_mouse_phenome/) in which users can select, search and download any relationships. See Tanaka et al. (2020) [37] for details

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