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Fig. 2 | Chinese Journal of Cancer

Fig. 2

From: Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Fig. 2

Analysis of the workflow applied to prioritize variants found in the whole-exome sequencing (WES) data from the proband. Two different sources of the proband’s DNA (blood and normal colon tissues) were analyzed with WES. A quality filter was first applied to minimize false positive variants, permitting us to obtain 19,673 and 18,696 variants in DNA in the blood and normal colon tissues from the proband, respectively. Since massively parallel sequencing can generate artifacts, a total of 11,737 variants shared between the two sources of DNA were used to apply a twofold strategy to identify variants associated with CRC. The first approach (“candidate gene approach”) selected 26 variants from the 57 CRC susceptibility genes; the second approach (“whole-exome approach”) selected 13 truncating variants with a minor allele frequency (MAF) <0.01. IGV the Integrative Genomic Viewer software

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