Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy C. Alexander.

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Presentation transcript:

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy C. Alexander Valencia, Devin Rhodenizer, Shruti Bhide, Ephrem Chin, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Carsten Bonnemann, Madhuri Hegde The Journal of Molecular Diagnostics Volume 14, Issue 3, Pages 233-246 (May 2012) DOI: 10.1016/j.jmoldx.2012.01.009 Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Average gene coverage among all of the congenital muscular dystrophy genes following RainDance and SureSelect target enrichment and next-generation sequencing. The Journal of Molecular Diagnostics 2012 14, 233-246DOI: (10.1016/j.jmoldx.2012.01.009) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Types of variants detected in RainDance and SureSelect samples that were Sanger sequence confirmed. A: Example of splice site mutation of sample C15. One copy of an IVS17+1G>A splice site mutation in intron 17 of POMGNT1 was detected by Sanger sequencing, RainDance, and SureSelect data. Arrows, splice site mutation. B: Example of missense mutation detected in sample C12. One copy of c.2084C>T (p.D695V) missense mutation in LAMA2 was observed in Sanger sequencing, RainDance, and SureSelect data. Arrows, missense mutation. The Journal of Molecular Diagnostics 2012 14, 233-246DOI: (10.1016/j.jmoldx.2012.01.009) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions