The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats

by van der Weide, Robin H., Simonis, Marieke, Hermsen, Roel, Toonen, Pim, Cuppen, Edwin, de Ligt, Joep
Published 2016

Mobster: accurate detection of mobile element insertions in next generation sequencing data

by Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y
Published 2014

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

by de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Published 2014

Genomic landscape of rat strain and substrain variation

by Hermsen, Roel, de Ligt, Joep, Spee, Wim, Blokzijl, Francis, Schäfer, Sebastian, Adami, Eleonora, Boymans, Sander, Flink, Stephen, van Boxtel, Ruben, van der Weide, Robin H, Aitman, Tim, Hübner, Norbert, Simonis, Marieke, Tabakoff, Boris, Guryev, Victor, Cuppen, Edwin
Published 2015

Next-generation genetic testing for retinitis pigmentosa

by Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Published 2012

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

by Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., van Duijn, Cornelia M., Eichler, Evan E., de Bakker, Paul I. W., Swertz, Morris A., Wijmenga, Cisca, van Ommen, Gert-Jan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor
Published 2016

Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver

by Huch, Meritxell, Gehart, Helmuth, van Boxtel, Ruben, Hamer, Karien, Blokzijl, Francis, Verstegen, Monique M.A., Ellis, Ewa, van Wenum, Martien, Fuchs, Sabine A., de Ligt, Joep, van de Wetering, Marc, Sasaki, Nobuo, Boers, Susanne J., Kemperman, Hans, de Jonge, Jeroen, Ijzermans, Jan N.M., Nieuwenhuis, Edward E.S., Hoekstra, Ruurdtje, Strom, Stephen, Vries, Robert R.G., van der Laan, Luc J.W., Cuppen, Edwin, Clevers, Hans
Published 2015

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

by Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, RoaFuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Poorten, Vincent Vander, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Published 2016

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

by Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Published 2015

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

by Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky JJ, van den Hout, Mirjam CGN, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan DH, Kamps, Rick, Kockx, Christel EM, de Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan T, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Published 2015