DELLY: structural variant discovery by integrated paired-end and split-read analysis von Rausch, Tobias, Zichner, Thomas, Schlattl, Andreas, Stütz, Adrian M, Benes, Vladimir, Korbel, Jan O

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Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations von Rausch, Tobias, Jones, David T.W., Zapatka, Marc, Stütz, Adrian M., Zichner, Thomas, Weischenfeldt, Joachim, Jäger, Natalie, Remke, Marc, Shih, David, Northcott, Paul A., Pfaff, Elke, Tica, Jelena, Wang, Qi, Massimi, Luca, Witt, Hendrik, Bender, Sebastian, Pleier, Sabrina, Cin, Huriye, Hawkins, Cynthia, Beck, Christian, von Deimling, Andreas, Hans, Volkmar, Brors, Benedikt, Eils, Roland, Scheurlen, Wolfram, Blake, Jonathon, Benes, Vladimir, Kulozik, Andreas E., Witt, Olaf, Martin, Dianna, Zhang, Cindy, Porat, Rinnat, Merino, Diana M., Wasserman, Jonathan, Jabado, Nada, Fontebasso, Adam, Bullinger, Lars, Rücker, Frank G., Döhner, Konstanze, Döhner, Hartmut, Koster, Jan, Molenaar, Jan J., Versteeg, Rogier, Kool, Marcel, Tabori, Uri, Malkin, David, Korshunov, Andrey, Taylor, Michael D., Lichter, Peter, Pfister, Stefan M., Korbel, Jan O.

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Assembly and diploid architecture of an individual human genome via single-molecule technologies von Pendleton, Matthew, Sebra, Robert, Pang, Andy Wing Chun, Ummat, Ajay, Franzen, Oscar, Rausch, Tobias, Stütz, Adrian M, Stedman, William, Anantharaman, Thomas, Hastie, Alex, Dai, Heng, Fritz, Markus Hsi-Yang, Cao, Han, Cohain, Ariella, Deikus, Gintaras, Durrett, Russell E, Blanchard, Scott C, Altman, Roger, Chin, Chen-Shan, Guo, Yan, Paxinos, Ellen E, Korbel, Jan O, Darnell, Robert B, McCombie, W Richard, Kwok, Pui-Yan, Mason, Christopher E, Schadt, Eric E, Bashir, Ali

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Integrative Genomic Analyses Reveal an Androgen-Driven Somatic Alteration Landscape in Early-Onset Prostate Cancer von Weischenfeldt, Joachim, Simon, Ronald, Feuerbach, Lars, Schlangen, Karin, Weichenhan, Dieter, Minner, Sarah, Wuttig, Daniela, Warnatz, Hans-Jörg, Stehr, Henning, Rausch, Tobias, Jäger, Natalie, Gu, Lei, Bogatyrova, Olga, Stütz, Adrian M., Claus, Rainer, Eils, Jürgen, Eils, Roland, Gerhäuser, Clarissa, Huang, Po-Hsien, Hutter, Barbara, Kabbe, Rolf, Lawerenz, Christian, Radomski, Sylwester, Bartholomae, Cynthia C., Fälth, Maria, Gade, Stephan, Schmidt, Manfred, Amschler, Nina, Haß, Thomas, Galal, Rami, Gjoni, Jovisa, Kuner, Ruprecht, Baer, Constance, Masser, Sawinee, von Kalle, Christof, Zichner, Thomas, Benes, Vladimir, Raeder, Benjamin, Mader, Malte, Amstislavskiy, Vyacheslav, Avci, Meryem, Lehrach, Hans, Parkhomchuk, Dmitri, Sultan, Marc, Burkhardt, Lia, Graefen, Markus, Huland, Hartwig, Kluth, Martina, Krohn, Antje, Sirma, Hüseyin, Stumm, Laura, Steurer, Stefan, Grupp, Katharina, Sültmann, Holger, Sauter, Guido, Plass, Christoph, Brors, Benedikt, Yaspo, Marie-Laure, Korbel, Jan O., Schlomm, Thorsten

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A comprehensive map of mobile element insertion polymorphisms in humans von Stewart, Chip, Kural, Deniz, Strömberg, Michael P, Walker, Jerilyn A, Konkel, Miriam K, Stütz, Adrian M, Urban, Alexander E, Grubert, Fabian, Lam, Hugo Y K, Lee, Wan-Ping, Busby, Michele, Indap, Amit R, Garrison, Erik, Huff, Chad, Xing, Jinchuan, Snyder, Michael P, Jorde, Lynn B, Batzer, Mark A, Korbel, Jan O, Marth, Gabor T

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A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice von Roidos, Paris, Sungalee, Stephanie, Benfatto, Salvatore, Serçin, Özdemirhan, Stütz, Adrian M., Abdollahi, Amir, Mauer, Jan, Zenke, Frank T., Korbel, Jan O., Mardin, Balca R.

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The genomic and transcriptomic landscape of a HeLa cell line von Landry, Jonathan J M, Pyl, Paul Theodor, Rausch, Tobias, Zichner, Thomas, Tekkedil, Manu M, Stütz, Adrian M, Jauch, Anna, Aiyar, Raeka S, Pau, Gregoire, Delhomme, Nicolas, Gagneur, Julien, Korbel, Jan O, Huber, Wolfgang, Steinmetz, Lars M

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A cell‐based model system links chromothripsis with hyperploidy von Mardin, Balca R, Drainas, Alexandros P, Waszak, Sebastian M, Weischenfeldt, Joachim, Isokane, Mayumi, Stütz, Adrian M, Raeder, Benjamin, Efthymiopoulos, Theocharis, Buccitelli, Christopher, Segura‐Wang, Maia, Northcott, Paul, Pfister, Stefan M, Lichter, Peter, Ellenberg, Jan, Korbel, Jan O

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The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse von Bandapalli, Obul R, Schuessele, Stephanie, Kunz, Joachim B, Rausch, Tobias, Stütz, Adrian M, Tal, Noa, Geron, Ifat, Gershman, Nava, Izraeli, Shai, Eilers, Juliane, Vaezipour, Nina, Kirschner-Schwabe, Renate, Hof, Jana, von Stackelberg, Arend, Schrappe, Martin, Stanulla, Martin, Zimmermann, Martin, Koehler, Rolf, Avigad, Smadar, Handgretinger, Rupert, Frismantas, Viktoras, Bourquin, Jean Pierre, Bornhauser, Beat, Korbel, Jan O, Muckenthaler, Martina U, Kulozik, Andreas E

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Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads von Moncunill, Valentí, Gonzalez, Santi, Beà, Sílvia, Andrieux, Lise O, Salaverria, Itziar, Royo, Cristina, Martinez, Laura, Puiggròs, Montserrat, Segura-Wang, Maia, Stütz, Adrian M, Navarro, Alba, Royo, Romina, Gelpí, Josep L, Gut, Ivo G, López-Otín, Carlos, Orozco, Modesto, Korbel, Jan O, Campo, Elias, Puente, Xose S, Torrents, David

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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library von Korbel, Jan O, Gerstein, Mark B, Lam, Hugo Y K, Mu, Xinmeng Jasmine, Stütz, Adrian M, Tanzer, Andrea, Cayting, Philip D, Snyder, Michael, Kim, Philip M

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Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms von Abyzov, Alexej, Li, Shantao, Kim, Daniel Rhee, Mohiyuddin, Marghoob, Stütz, Adrian M., Parrish, Nicholas F., Mu, Xinmeng Jasmine, Clark, Wyatt, Chen, Ken, Hurles, Matthew, Korbel, Jan O., Lam, Hugo Y. K., Lee, Charles, Gerstein, Mark B.

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Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation von Kunz, Joachim B, Rausch, Tobias, Bandapalli, Obul R, Eilers, Juliane, Pechanska, Paulina, Schuessele, Stephanie, Assenov, Yassen, Stütz, Adrian M, Kirschner-Schwabe, Renate, Hof, Jana, Eckert, Cornelia, von Stackelberg, Arend, Schrappe, Martin, Stanulla, Martin, Koehler, Rolf, Avigad, Smadar, Elitzur, Sarah, Handgretinger, Rupert, Benes, Vladimir, Weischenfeldt, Joachim, Korbel, Jan O, Muckenthaler, Martina U, Kulozik, Andreas E

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Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3) von Coccé, Mariela C., Mardin, Balca R., Bens, Susanne, Stütz, Adrian M., Lubieniecki, Fabiana, Vater, Inga, Korbel, Jan O., Siebert, Reiner, Alonso, Cristina N., Gallego, Marta S.

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Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells von Drainas, Alexandros P., Lambuta, Ruxandra A., Ivanova, Irina, Serçin, Özdemirhan, Sarropoulos, Ioannis, Smith, Mike L., Efthymiopoulos, Theocharis, Raeder, Benjamin, Stütz, Adrian M., Waszak, Sebastian M., Mardin, Balca R., Korbel, Jan O.

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Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing von Zichner, Thomas, Garfield, David A, Rausch, Tobias, Stütz, Adrian M, Cannavó, Enrico, Braun, Martina, Furlong, Eileen E M, Korbel, Jan O

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Primate genome architecture influences structural variation mechanisms and functional consequences von Gokcumen, Omer, Tischler, Verena, Tica, Jelena, Zhu, Qihui, Iskow, Rebecca C., Lee, Eunjung, Fritz, Markus Hsi-Yang, Langdon, Amy, Stütz, Adrian M., Pavlidis, Pavlos, Benes, Vladimir, Mills, Ryan E., Park, Peter J., Lee, Charles, Korbel, Jan O.

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Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity von Waszak, Sebastian M, Hasin, Yehudit, Zichner, Thomas, Olender, Tsviya, Keydar, Ifat, Khen, Miriam, Stütz, Adrian M, Schlattl, Andreas, Lancet, Doron, Korbel, Jan O

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Chromothripsis followed by circular recombination drives oncogene amplification in human cancer von Rosswog, Carolina, Bartenhagen, Christoph, Welte, Anne, Kahlert, Yvonne, Hemstedt, Nadine, Lorenz, Witali, Cartolano, Maria, Ackermann, Sandra, Perner, Sven, Vogel, Wenzel, Altmüller, Janine, Nürnberg, Peter, Hertwig, Falk, Göhring, Gudrun, Lilienweiss, Esther, Stütz, Adrian M., Korbel, Jan O., Thomas, Roman K., Peifer, Martin, Fischer, Matthias

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MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child von Gatz, Susanne A., Salles, Daniela, Jacobsen, Eva-Maria, Dörk, Thilo, Rausch, Tobias, Aydin, Sevtap, Surowy, Harald, Volcic, Meta, Vogel, Walther, Debatin, Klaus-Michael, Stütz, Adrian M., Schwarz, Klaus, Pannicke, Ulrich, Hess, Timo, Korbel, Jan O., Schulz, Ansgar S., Schumacher, Johannes, Wiesmüller, Lisa

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