Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Rolph Pfundt, Marisol del Rosario, Lisenka E. L. M. Vissers, Michael P. Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel R. Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg, Nienke Wieskamp, Alexander P. A. Stegmann, Servi J. C. Stevens, Richard J. T. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. VeltmanJayne Y. Hehir-Kwa*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)667-675
Number of pages9
JournalGenetics in Medicine
Volume19
Issue number6
DOIs
Publication statusPublished - Jun 2017

Keywords

  • copy-number variants
  • diagnostic yield
  • exome sequencing
  • read depth
  • structural variation
  • SEVERE INTELLECTUAL DISABILITY
  • CONGENITAL-ANOMALIES
  • STRUCTURAL VARIATION
  • DEVELOPMENTAL DELAY
  • QT SYNDROME
  • GENOME
  • MODEL
  • MAP
  • POLYMORPHISM
  • INSERTIONS

Cite this

Pfundt, R., del Rosario, M., Vissers, L. E. L. M., Kwint, M. P., Janssen, I. M., de Leeuw, N., Yntema, H. G., Nelen, M. R., Lugtenberg, D., Kamsteeg, E-J., Wieskamp, N., Stegmann, A. P. A., Stevens, S. J. C., Rodenburg, R. J. T., Simons, A., Mensenkamp, A. R., Rinne, T., Gilissen, C., Scheffer, H., ... Hehir-Kwa, J. Y. (2017). Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genetics in Medicine, 19(6), 667-675. https://doi.org/10.1038/gim.2016.163