Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes

Autor: Minna Brunfeldt, Harriet Teare, Daan Schuurbiers, Daniela Steinberger, Elianne Gerrits, Marleena Vornanen, Nine Knoers, Helena Kääriäinen, Terry Vrijenhoek

Publikováno v: Journal of community genetics, 13(2), 247-256. SPRINGER HEIDELBERG

Whole-genome sequencing (WGS) can provide valuable health insight for research participants or patients. Opportunities to be sequenced are increasing as direct-to-consumer (DTC) testing becomes more prevalent, but it is still fairly unusual to have b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82363c46a4013af82085b977e21f104a
https://doi.org/10.1007/s12687-021-00561-0

Clinical genetics and its adjacent regimes

Autor: Tessel Rigter, Terry Vrijenhoek, Tessa Z Lange

Clinical genetics is the prime application of genetics in healthcare, providing highly advanced and reliable diagnostics for patients with (mostly rare) disease of genetic origin. Whereas many novel technologies have expanded the genetic toolkit, int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221cc61187d392352ea4a103cf3cfee6

Challenges for implementing next-generation sequencing-based genome diagnostics: it’s also the people, not just the machines

Autor: Joris A. Veltman, Terry Vrijenhoek, Edwin Cuppen

Publikováno v: Personalized Medicine. 10:473-484

The scope of next-generation DNA sequencing (NGS) is transitioning from research to diagnostics (and beyond), but the conditions for routine clinical application have not been clearly defined. Technological limitations for sequencing a patient’s DN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06b1824d5edc3f9553445651477493e
https://doi.org/10.2217/pme.13.41

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Autor: Olaf R.F. Mook, Marianne van Tienhoven, Martin G Elferink, Edwin Cuppen, Wim Dorlijn, Terry Vrijenhoek, Christel E M Kockx, Helger Ijntema, Quinten Waisfisz, Janneke Marjan Weiss, Jan D. H. Jongbloed, Jasper J. Saris, Martijn Vermaat, Adalberto Costessi, Hans Lunstroo, Frank Sleutels, Dicky J. J. Halley, Marjon van Slegtenhorst, Ronald Lekanne Dit Deprez, Godelieve R.F. Claes, Marjolein Kriek, Erik A. Sistermans, Richard J. Sinke, Arthur van den Wijngaard, Marcel M.A.M. Mannens, Bart de Koning, Steven van Hove, Marco Rijnen, Isaac J. Nijman, Rick Kamps, Bert van der Zwaag, Wilfred F. J. van IJcken, Maartje J Vogel, Winfried Van Eyndhoven, Ken Kraaijeveld, Raoul C.M. Hennekam, Lennart Johansson, Mirjam C G N van den Hout, Corrette Ploem, Elcke J. Kranendonk, Gijs W. E. Santen, Joep de Ligt, Derek Butler, Wilbert van Workum, Nienke van der Stoep, Johan T. den Dunnen, Joris A. Veltman, Marcel R. Nelen

Publikováno v: European Journal of Human Genetics, 23(9), 1142-1150
European Journal of Human Genetics, 23, 1270
European Journal of Human Genetics, 23(9), 1142-1150. Nature Publishing Group
European Journal of Human Genetics, 23(9). Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 23(9), 1142. Nature Publishing Group
European journal of human genetics, 23(9), 1142-1150. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 23, 9, pp. 1270
Vrijenhoek, T, Kraaijeveld, K, Elferink, M, de Ligt, J, Kranendonk, E, Santen, G, Nijman, I J, Butler, D, Claes, G, Costessi, A, Dorlijn, W, van Eyndhoven, W, Halley, D J J, van den Hout, M C G N, van Hove, S, Johansson, L F, Jongbloed, J D H, Kamps, R, Kockx, C E M, de Koning, B, Kriek, M, Deprez, R L D, Lunstroo, H, Mannens, M, Mook, O R, Nelen, M, Ploem, C, Rijnen, M, Saris, J J, Sinke, R, Sistermans, E A, van Slegtenhorst, M, Sleutels, F, van der Stoep, N, van Tienhoven, M, Vermaat, M, Vogel, M, Waisfisz, Q, Weiss, M M, van den Wijngaard, A, van Workum, W, Ijntema, H, van der Zwaag, B, van Ijcken, W F J, den Dunnen, J, Veltman, J A, Hennekam, R & Cuppen, E 2015, ' Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects ', European Journal of Human Genetics, vol. 23, no. 9, pp. 1142-1150 . https://doi.org/10.1038/ejhg.2014.279

Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in ei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe9849711312136522d13003018cb1d3
https://doi.org/10.1038/ejhg.2015.44

Impact of Whole Exome Sequencing (WES) on Costs and Medical Decision-Making

Autor: P Middelburg, Terry Vrijenhoek, Anke M. Hövels, Geert W.J. Frederix, G Monroe, K.L.I. van Gassen, Nine V A M Knoers

Publikováno v: Value in Health. 19:A705-A706

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54178f4450ea03f8f129a89b4664b0df
https://doi.org/10.1016/j.jval.2016.09.2060