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. 2019 Jun 20;4(12):e129749. doi: 10.1172/jci.insight.129749

Figure 6. WES reveals somatic SNVs in BPH nodules.

Figure 6

(A) Integrated Genome Viewer (IGV) display of mapped reads from WES of BPH and matched normal DNA within the IL1B gene. Red reads correspond to the positive DNA strand, and blue reads correspond to the negative DNA strand; only a subset of mapped reads (totals indicated) shown. Note, the IL1B SNV in BPH leads to a frameshift with early translational termination. (B) Similar IGV display depicts a nonsynonymous SNV in the TTN gene in a different BPH case. (C) Sanger sequencing validation of IL1B SNV; red asterisk marks doublet peak indicative of SNV. (D) Sanger sequencing validation of TTN SNV; green asterisk marks doublet peak indicative of SNV. See Supplemental Table 10 for additional SNVs validated by deep amplicon resequencing.