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Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum  Mohammad J. Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter.

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Presentation on theme: "Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum  Mohammad J. Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter."— Presentation transcript:

1 Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum 
Mohammad J. Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter Deforce, Ludovic Martin, Georges Leftheriotis, Anne De Paepe, Paul J. Coucke, Olivier M. Vanakker  Journal of Investigative Dermatology  Volume 135, Issue 4, Pages (April 2015) DOI: /jid Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Percentage (%) of bases covered of four targeted genes at ≥1x depth. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Percentage (%) of bases covered of four targeted genes at ≥5x depth. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Percentage (%) of exons covered in four genes using ≥5 and ≥20 depth as a filter. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions


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