Development of a Next-Generation Sequencing Method for BRCA Mutation Screening Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.

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Presentation transcript:

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim Yap, Raymond Ng, Puay Hoon Tan, Gay Hui Ho, Peter Ang, Ann Siew Gek Lee The Journal of Molecular Diagnostics Volume 14, Issue 6, Pages 602-612 (November 2012) DOI: 10.1016/j.jmoldx.2012.06.003 Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Identification of indels in Sanger sequencing and NGS, as visualized in SeqMan (top) and IGV (bottom), respectively. The direction of Sanger sequencing is indicated by an arrow. Insertions or deletions are represented by vertical purple bars or dashes in IGV. A: A G deletion at position 33377 (exon 11–6 of BRCA1) in sample S15; (B) an A insertion at position 22722 (exon 16 of BRCA2) in sample S18; (C) a TG deletion at position 22722–22723 (exon 11HL of BRCA2) in sample S07. The Journal of Molecular Diagnostics 2012 14, 602-612DOI: (10.1016/j.jmoldx.2012.06.003) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Sanger sequencing chromatograms (A–D) BRCA1, G9738A; BRCA2, C81454T; BRCA2, T47030C; BRCA2, and C25198T, respectively; corresponding to discrepant base positions described in Table 4. The variant position is indicated by an arrow, with the corresponding sample, gene, and nucleotide change indicated above each chromatogram. The Journal of Molecular Diagnostics 2012 14, 602-612DOI: (10.1016/j.jmoldx.2012.06.003) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions