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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Exome analysis of carotid body tumor

Fig. 4

Distribution of potential driver mutations in the genes of interest across the CBT samples. For PDM determination, we apply three additional filters for the previous list. We included mutations occurring only in healthy human population with less than 2% frequency according to the ExAC database and 1000 Genomes project. Only mutations reported as benign according to ClinVar were removed. We suggested that PDMs are only those mutations which are located in conservative DNA fragments. Fragments with conservative score higher than 0.6 (scale: from 0 - highly variable fragment, to 1 - highly conservative fragment) according to phastCons for three groups (46 placentals, 46 primates, and 100 vertebrates) were included. Colored scale indicates the number of mutations in one gene

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