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 Dunnen; Jeroen F. J. Laros; Morris A. Swertz; Marielle E. van Gijn

doi:10.1002/humu.23896

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 journal › Article › Academic › peer-review

10 Citations (Web of Science)

Original language	English
Pages (from-to)	2230-2238
Number of pages	9
Journal	Human Mutation
Volume	40
Issue number	12
DOIs	https://doi.org/10.1002/humu.23896
Publication status	Published - Dec 2019

Keywords

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

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Cite this

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., ... 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.}",

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doi = "10.1002/humu.23896",

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volume = "40",

pages = "2230--2238",

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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 journal › Article › Academic › peer-review

TY - JOUR

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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

C2 - 31433103

VL - 40

SP - 2230

EP - 2238

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

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ER -