Resultados da pesquisa - Schubach, Max

Short clones or long clones? A simulation study on the use of paired reads in metagenomics Por Mitra, Suparna, Schubach, Max, Huson, Daniel H

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The impact of different negative training data on regulatory sequence predictions Por Krützfeldt, Louisa-Marie, Schubach, Max, Kircher, Martin

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CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores Por Rentzsch, Philipp, Schubach, Max, Shendure, Jay, Kircher, Martin

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Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants Por Schubach, Max, Re, Matteo, Robinson, Peter N., Valentini, Giorgio

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Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods Por Notaro, Marco, Schubach, Max, Robinson, Peter N., Valentini, Giorgio

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Further delineation of the SATB2 phenotype Por Döcker, Dennis, Schubach, Max, Menzel, Moritz, Munz, Marita, Spaich, Christiane, Biskup, Saskia, Bartholdi, Deborah

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Alternate-locus aware variant calling in whole genome sequencing Por Jäger, Marten, Schubach, Max, Zemojtel, Tomasz, Reinert, Knut, Church, Deanna M., Robinson, Peter N.

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Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? Por Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia

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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution Por Kircher, Martin, Xiong, Chenling, Martin, Beth, Schubach, Max, Inoue, Fumitaka, Bell, Robert J. A., Costello, Joseph F., Shendure, Jay, Ahituv, Nadav

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parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants Por Petrini, Alessandro, Mesiti, Marco, Schubach, Max, Frasca, Marco, Danis, Daniel, Re, Matteo, Grossi, Giuliano, Cappelletti, Luca, Castrignanò, Tiziana, Robinson, Peter N, Valentini, Giorgio

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Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived... Por Sonntag, Katja, Hashimoto, Hisayoshi, Eyrich, Matthias, Menzel, Moritz, Schubach, Max, Döcker, Dennis, Battke, Florian, Courage, Carolina, Lambertz, Helmut, Handgretinger, Rupert, Biskup, Saskia, Schilbach, Karin

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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies Por Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Saskia, Berger, Wolfgang, Wissinger, Bernd, Neidhardt, John

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Next-generation diagnostics and disease-gene discovery with the Exomiser Por Smedley, Damian, Jacobsen, Julius O B, Jager, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L, Bone, William P, Haendel, Melissa A, Robinson, Peter N

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Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation Por Holtgrewe, Manuel, Knaus, Alexej, Hildebrand, Gabriele, Pantel, Jean-Tori, Santos, Miguel Rodriguez de los, Neveling, Kornelia, Goldmann, Jakob, Schubach, Max, Jäger, Marten, Coutelier, Marie, Mundlos, Stefan, Beule, Dieter, Sperling, Karl, Krawitz, Peter Michael

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability Por Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai

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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements Por Gordon, M. Grace, Inoue, Fumitaka, Martin, Beth, Schubach, Max, Agarwal, Vikram, Whalen, Sean, Feng, Shiyun, Zhao, Jingjing, Ashuach, Tal, Ziffra, Ryan, Kreimer, Anat, Georgakopoulous-Soares, Ilias, Yosef, Nir, Ye, Chun Jimmie, Pollard, Katherine S., Shendure, Jay, Kircher, Martin, Ahituv, Nadav

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Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders Por Oheim, Ralf, Tsourdi, Elena, Seefried, Lothar, Beller, Gisela, Schubach, Max, Vettorazzi, Eik, Stürznickel, Julian, Rolvien, Tim, Ehmke, Nadja, Delsmann, Alena, Genest, Franca, Krüger, Ulrike, Zemojtel, Tomasz, Barvencik, Florian, Schinke, Thorsten, Jakob, Franz, Hofbauer, Lorenz C, Mundlos, Stefan, Kornak, Uwe

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease Por Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.

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Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay Por Shigaki, Dustin, Adato, Orit, Adhikar, Aashish N., Dong, Shengcheng, Hawkins-Hooker, Alex, Inoue, Fumitaka, Juven-Gershon, Tamar, Kenlay, Henry, Martin, Beth, Patra, Ayoti, Penzar, Dmitry P., Schubach, Max, Xiong, Chenling, Yan, Zhongxia, Boyle, Alan P., Kreimer, Anat, Kulakovskiy, Ivan V., Reid, John, Unger, Ron, Yosef, Nir, Shendure, Jay, Ahituv, Nadav, Kircher, Martin, Beer, Michael A.

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Por Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S., Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N., Schelhaas, Helenius J., Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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