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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 on theme: "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."— Presentation transcript:

1 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 (November 2012) DOI: /j.jmoldx Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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 (exon 11–6 of BRCA1) in sample S15; (B) an A insertion at position (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  , DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 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  , DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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