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Fig. 3 | Human Genomics

Fig. 3

From: Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

Fig. 3

Venn diagram illustrating the classification genes according to the selected feature categories. A total of 16, 9 and 25 genes were considered as hematopoietic, mosaic and proliferative, respectively, based on our categorization [13, 38] and assessment of allelic imbalance [7, 15]. The genes with evidence of mosaicism, BRAF, IDH2 and KRAS, belonged to each of the categories (Additional file 1: Table S3). BRAF, B-Raf proto-oncogene, serine/threonine kinase; IDH2, isocitrate dehydrogenase (NADP(+)) 2; KRAS, KRAS proto-oncogene, GTPase;

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Human Genomics

ISSN: 1479-7364