Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Marjan M. Weiss, Bert Van der Zwaag, Jan D. H. Jongbloed, Maartje J. Vogel, Hennie T. Bruggenwirth, Ronald H. Lekanne Deprez, Olaf Mook, Claudia A. L. Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel R. Nelen*, Nienke van der Stoep

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

66 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1313-1321
JournalHuman Mutation
Issue number10
Publication statusPublished - Oct 2013


  • NGS guidelines
  • clinical genetic laboratories
  • diagnostic yield
  • diagnostic routing

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