Isaac J. Nijman, PhD, Joris M

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Presentation transcript:

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies Isaac J. Nijman, PhD, Joris M. van Montfrans, MD, PhD, Marlous Hoogstraat, BAS, Marianne L. Boes, PhD, Lisette van de Corput, PhD, Ellen D. Renner, MD, PhD, Patrick van Zon, BSc, Stef van Lieshout, BSc, Martin G. Elferink, PhD, Mirjam van der Burg, PhD, Clementien L. Vermont, MD, PhD, Bert van der Zwaag, PhD, Esther Janson, BSc, Edwin Cuppen, PhD, Johannes K. Ploos van Amstel, PhD, Marielle E. van Gijn, PhD Journal of Allergy and Clinical Immunology Volume 133, Issue 2, Pages 529-534.e1 (February 2014) DOI: 10.1016/j.jaci.2013.08.032 Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 The detection of exonic deletions in NGS data. Red bars represent statistically significant z score deviations. A heterozygous exon 17 to 26 deletion (1), an absent exonic deletion (2), a homozygous exon 11 to 48 deletion (3), and a homozygous deletion of exon 1 to 2 (4) are depicted. Because mutations in exon 1 of DOCK8 were not evaluable with our NGS method, only the deletion of exon 2 could be detected. Journal of Allergy and Clinical Immunology 2014 133, 529-534.e1DOI: (10.1016/j.jaci.2013.08.032) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions