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. 2019 Apr 22;7:e6661. doi: 10.7717/peerj.6661

Figure 3. Representative image of read alignments showing the germline mutations of BRCA1 and BRCA2 detected by NGS analysis after minimal adjustments in the analytical pipeline of Torrent Suite Software.

Figure 3

Read alignments visualized with IGV showing the germline mutation of BRCA1, c.4964_4982del19 (p.Ser1655Tyrfs) and BRCA2, c.7921_7926delGAATTTinsAG (p.Glu2641Argfs) (A and C). On the right side of the image, representative validation of NGS data by Sanger sequencing. Germline mutations were detected in the patients but not in the control subject. Arrows indicate the position of the mutated nucleotides (B and D).