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Fig. 3 | BMC Genetics

Fig. 3

From: Filtering genetic variants and placing informative priors based on putative biological function

Fig. 3

Comparison between the PolyPhen2, SIFT, and RegulomeDB functional prediction scores. Left column: Correlation of PolyPhen2 functional prediction scores with (a) SIFT or (c) RegulomeDB scores. Functional scores were transformed to have the same directionality. Nonsynonymous coding SNVs that alter the protein function should receive a PolyPhen2 score of 1 and a SIFT score of 0. Scores are metric and can be categorized as displayed. RegulomeDB annotates regulatory SNVs by an ordinal score ranging from the highest evidence (eQTL, expression quantitative trait locus) to the lowest. Right column: Filters or priors based on (b) SIFT or (d) RegulomeDB functional scores are partially mismatched on GAW19 simulated DBP. Symbols depict SNVs in the same gene: LEPR (▲), TNN (♣), HIF3A (●), MAP4(♥), MUC13(✷), CGN(■)

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BMC Genomic Data

ISSN: 2730-6844

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