Fig. 4 | Nature Communications

Fig. 4

From: Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Fig. 4

Performance of GeneNetwork on solved cases. a Comparison between using GADO and Exomiser to rank candidate variants. b Our cohort contained a case with two distinct conditions, and clustering showed the HPO terms of the same disease are closest to each other. Note, the HPO term “Inflammation of the large intestine” did not yield a significant prediction profile and therefore the parent terms “Abnormality of the large intestine”, “Increased inflammatory response” and “Functional abnormality of the gastrointestinal tract” were used for this case

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