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Fig. 3 | Human Genomics

Fig. 3

From: Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Fig. 3

Top-k recall comparison with benchmark models using external validation. The same set of genes and variants were used to compare the performance of variant prioritization without any bias. For Exomiser and LIRICAL, gene scores were first used to prioritize the most probable causal genes and then variants were prioritized using variant scores

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Human Genomics

ISSN: 1479-7364