Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Ivo F. A. C. Fokkema, Kasper J. van der Velde, Mariska K. Slofstra, Claudia A. L. Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaac J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, Ruben J. G. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den DunnenJeroen F. J. Laros, Morris A. Swertz, Marielle E. van Gijn*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2230-2238
Number of pages9
JournalHuman Mutation
Volume40
Issue number12
DOIs
Publication statusPublished - Dec 2019

Keywords

  • data sharing
  • database
  • diagnostics
  • NGS
  • whole-exome sequencing
  • SEQUENCE VARIANTS
  • RECOMMENDATIONS
  • CARDIOMYOPATHIES
  • CLASSIFICATION

Cite this

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., ... van Gijn, M. E. (2019). Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. Human Mutation, 40(12), 2230-2238. https://doi.org/10.1002/humu.23896
Fokkema, Ivo F. A. C. ; van der Velde, Kasper J. ; Slofstra, Mariska K. ; Ruivenkamp, Claudia A. L. ; Vogel, Maartje J. ; Pfundt, Rolph ; Blok, Marinus J. ; Deprez, Ronald H. Lekanne ; Waisfisz, Quinten ; Abbott, Kristin M. ; Sinke, Richard J. ; Rahman, Rubayte ; Nijman, Isaac J. ; de Koning, Bart ; Thijs, Gert ; Wieskamp, Nienke ; Moritz, Ruben J. G. ; Charbon, Bart ; Saris, Jasper J. ; den Dunnen, Johan T. ; Laros, Jeroen F. J. ; Swertz, Morris A. ; van Gijn, Marielle E. / Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. In: Human Mutation. 2019 ; Vol. 40, No. 12. pp. 2230-2238.
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title = "Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data",
keywords = "data sharing, database, diagnostics, NGS, whole-exome sequencing, SEQUENCE VARIANTS, RECOMMENDATIONS, CARDIOMYOPATHIES, CLASSIFICATION",
author = "Fokkema, {Ivo F. A. C.} and {van der Velde}, {Kasper J.} and Slofstra, {Mariska K.} and Ruivenkamp, {Claudia A. L.} and Vogel, {Maartje J.} and Rolph Pfundt and Blok, {Marinus J.} and Deprez, {Ronald H. Lekanne} and Quinten Waisfisz and Abbott, {Kristin M.} and Sinke, {Richard J.} and Rubayte Rahman and Nijman, {Isaac J.} and {de Koning}, Bart and Gert Thijs and Nienke Wieskamp and Moritz, {Ruben J. G.} and Bart Charbon and Saris, {Jasper J.} and {den Dunnen}, {Johan T.} and Laros, {Jeroen F. J.} and Swertz, {Morris A.} and {van Gijn}, {Marielle E.}",
year = "2019",
month = "12",
doi = "10.1002/humu.23896",
language = "English",
volume = "40",
pages = "2230--2238",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley",
number = "12",

}

Fokkema, IFAC, van der Velde, KJ, Slofstra, MK, Ruivenkamp, CAL, Vogel, MJ, Pfundt, R, Blok, MJ, Deprez, RHL, Waisfisz, Q, Abbott, KM, Sinke, RJ, Rahman, R, Nijman, IJ, de Koning, B, Thijs, G, Wieskamp, N, Moritz, RJG, Charbon, B, Saris, JJ, den Dunnen, JT, Laros, JFJ, Swertz, MA & van Gijn, ME 2019, 'Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data', Human Mutation, vol. 40, no. 12, pp. 2230-2238. https://doi.org/10.1002/humu.23896

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. / Fokkema, Ivo F. A. C.; van der Velde, Kasper J.; Slofstra, Mariska K.; Ruivenkamp, Claudia A. L.; Vogel, Maartje J.; Pfundt, Rolph; Blok, Marinus J.; Deprez, Ronald H. Lekanne; Waisfisz, Quinten; Abbott, Kristin M.; Sinke, Richard J.; Rahman, Rubayte; Nijman, Isaac J.; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J. G.; Charbon, Bart; Saris, Jasper J.; den Dunnen, Johan T.; Laros, Jeroen F. J.; Swertz, Morris A.; van Gijn, Marielle E.

In: Human Mutation, Vol. 40, No. 12, 12.2019, p. 2230-2238.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

AU - Fokkema, Ivo F. A. C.

AU - van der Velde, Kasper J.

AU - Slofstra, Mariska K.

AU - Ruivenkamp, Claudia A. L.

AU - Vogel, Maartje J.

AU - Pfundt, Rolph

AU - Blok, Marinus J.

AU - Deprez, Ronald H. Lekanne

AU - Waisfisz, Quinten

AU - Abbott, Kristin M.

AU - Sinke, Richard J.

AU - Rahman, Rubayte

AU - Nijman, Isaac J.

AU - de Koning, Bart

AU - Thijs, Gert

AU - Wieskamp, Nienke

AU - Moritz, Ruben J. G.

AU - Charbon, Bart

AU - Saris, Jasper J.

AU - den Dunnen, Johan T.

AU - Laros, Jeroen F. J.

AU - Swertz, Morris A.

AU - van Gijn, Marielle E.

PY - 2019/12

Y1 - 2019/12

KW - data sharing

KW - database

KW - diagnostics

KW - NGS

KW - whole-exome sequencing

KW - SEQUENCE VARIANTS

KW - RECOMMENDATIONS

KW - CARDIOMYOPATHIES

KW - CLASSIFICATION

U2 - 10.1002/humu.23896

DO - 10.1002/humu.23896

M3 - Article

VL - 40

SP - 2230

EP - 2238

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 12

ER -

Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R et al. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. Human Mutation. 2019 Dec;40(12):2230-2238. https://doi.org/10.1002/humu.23896