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

doi:10.1002/humu.22368

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 journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1313-1321
Journal	Human Mutation
Volume	34
Issue number	10
DOIs	https://doi.org/10.1002/humu.22368
Publication status	Published - Oct 2013

Keywords

NGS guidelines
clinical genetic laboratories
diagnostic yield
diagnostic routing

Access to Document

10.1002/humu.22368

Cite this

Weiss, M. M., Van der Zwaag, B., Jongbloed, J. D. H., Vogel, M. J., Bruggenwirth, H. T., Deprez, R. H. L., Mook, O., Ruivenkamp, C. A. L., van Slegtenhorst, M. A., van den Wijngaard, A., Waisfisz, Q., Nelen, M. R., & van der Stoep, N. (2013). Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. Human Mutation, 34(10), 1313-1321. https://doi.org/10.1002/humu.22368

Weiss, Marjan M. ; Van der Zwaag, Bert ; Jongbloed, Jan D. H. ; Vogel, Maartje J. ; Bruggenwirth, Hennie T. ; Deprez, Ronald H. Lekanne ; Mook, Olaf ; Ruivenkamp, Claudia A. L. ; van Slegtenhorst, Marjon A. ; van den Wijngaard, Arthur ; Waisfisz, Quinten ; Nelen, Marcel R. ; van der Stoep, Nienke. / Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. In: Human Mutation. 2013 ; Vol. 34, No. 10. pp. 1313-1321.

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

keywords = "NGS guidelines, clinical genetic laboratories, diagnostic yield, diagnostic routing",

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

year = "2013",

month = oct,

doi = "10.1002/humu.22368",

language = "English",

volume = "34",

pages = "1313--1321",

journal = "Human Mutation",

issn = "1059-7794",

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Weiss, MM, Van der Zwaag, B, Jongbloed, JDH, Vogel, MJ, Bruggenwirth, HT, Deprez, RHL, Mook, O, Ruivenkamp, CAL, van Slegtenhorst, MA, van den Wijngaard, A, Waisfisz, Q, Nelen, MR & van der Stoep, N 2013, 'Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories', Human Mutation, vol. 34, no. 10, pp. 1313-1321. https://doi.org/10.1002/humu.22368

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. / Weiss, Marjan M.; Van der Zwaag, Bert; Jongbloed, Jan D. H.; Vogel, Maartje J.; Bruggenwirth, Hennie T.; Deprez, Ronald H. Lekanne; Mook, Olaf; Ruivenkamp, Claudia A. L.; van Slegtenhorst, Marjon A.; van den Wijngaard, Arthur; Waisfisz, Quinten; Nelen, Marcel R.; van der Stoep, Nienke.

In: Human Mutation, Vol. 34, No. 10, 10.2013, p. 1313-1321.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Vogel, Maartje J.

AU - Bruggenwirth, Hennie T.

AU - Deprez, Ronald H. Lekanne

AU - Mook, Olaf

AU - Ruivenkamp, Claudia A. L.

AU - van Slegtenhorst, Marjon A.

AU - van den Wijngaard, Arthur

AU - Waisfisz, Quinten

AU - Nelen, Marcel R.

AU - van der Stoep, Nienke

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KW - diagnostic routing

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