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Fig. 3 | BMC Bioinformatics

Fig. 3

From: Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

Fig. 3

Performance comparison of phenotype-driven prioritisation tools across three analysis types: phenotype-only and phenotype-plus-genomic analyses, both conducted on the 4K corpus, and structural variant analyses conducted on the structural variant corpus. Rank-based metrics (A, D, G) show the percentage of known entities ranked within the top 1, 3, 5 and 10 ranked candidates along with the percentage of found and missed entities. MRR scores, ranging from 0 to 1, are also presented, with higher values indicating better ranking performance. ROC curves (B, E, H) and Precision Recall curves (C, F, I) depict statistical methods based on the confusion matrix of the causative entities

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BMC Bioinformatics

ISSN: 1471-2105

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