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Fig. 8 | BMC Medical Genomics

Fig. 8

From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Fig. 8

Phenolyzer networks analysis of both HPO and WGS data yielded the correct diagnosis for the individual with HH (K10031-10145). Phenolyzer successfully linked the gene HFE to two HPO terms (HP:0011031 Abnormality of iron homeostasis, HP:0000939 Osteoporosis), bridged by the predictive diagnosis, hemochromatosis. The most disease relevant gene HFE, is showed as a seed gene (blue)

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