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Fig. 2 | Genome Medicine

Fig. 2

From: Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

Fig. 2

Benchmarking of command-line exome analysis software. Exomes were generated by randomly inserting known disease variants from the Human Genome Mutation Database (HGMD) into 1000 unaffected exomes from the 1000 Genomes Project. These were analyzed using each tool and the ability of each to rank the causative variant as the top hit, in the top 10 or top 50 was recorded. Default settings along with a minor allele frequency cutoff of 1 % were used for all. Analysis was performed using all phenotype annotations (a), just three of the terms chosen randomly (b), or with two of these three terms made less-specific and two random terms from the whole of the Human Phenotype Ontology (HPO) added (c)

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