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Fig. 1 | Genome Biology

Fig. 1

From: The somatic mutation landscape of the human body

Fig. 1

A method to identify DNA somatic mutations from RNA-seq. a A general overview of the method. RNA-seq reads were downloaded from GTEx v7 (left) and processed to identify positions with two different base calls at a high confidence. Then, sources of biological and technical artifacts were removed (right, see the “Methods” section). b Schematic illustrating potential sources of sequence variation. c Average percentage of variants detected in blood RNA-seq that are retained after each step of filtering (see the “Methods” section). d Validation of the method. For 105 individuals, we compared variant calls from exome DNA-seq data with those from RNA-seq of the same samples. Median FDR values per mutation type are shown, and they represent the fraction of mutations called in RNA-seq for which there are no exome reads supporting the same variant (see the “Methods” section and Additional file 1: Figure S1c). Error bars represent the 95% confidence interval after bootstrapping 10,000 times

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