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Fig. 2 | Human Genomics

Fig. 2

From: A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

Fig. 2

Prioritized variants in FMD datasets. Percentage of the variants ranked and shared in top 10 (blue), 20 (red), and 50 (yellow) ranked variants by (a) PAVAR score and VAAST; (b) Exomiser v2 score and Phevor; (c) the combination of the three systems (PAVAR, Exomiser v2, VAAST, VAAST-Phevor); (d) the combination of the three systems (PAVAR, Exomiser v2, VAAST, VAAST-Phevor) and CADD; and (e) the combination of the three systems (PAVAR, Exomiser v2, VAAST, VAAST-Phevor) and FATHMM. F = family controls exome dataset, T-F = in-house controls exome dataset without family control datasets, and T = in-house and family control datasets

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Human Genomics

ISSN: 1479-7364