The Regulatory Mendelian Mutation score for GRCh38

por Schubach, Max, Nazaretyan, Lusiné, Kircher, Martin
Publicado 2023

Short clones or long clones? A simulation study on the use of paired reads in metagenomics

por Mitra, Suparna, Schubach, Max, Huson, Daniel H
Publicado 2010

The impact of different negative training data on regulatory sequence predictions

por Krützfeldt, Louisa-Marie, Schubach, Max, Kircher, Martin
Publicado 2020

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

por Rentzsch, Philipp, Schubach, Max, Shendure, Jay, Kircher, Martin
Publicado 2021

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

por Schubach, Max, Re, Matteo, Robinson, Peter N., Valentini, Giorgio
Publicado 2017

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

por Notaro, Marco, Schubach, Max, Robinson, Peter N., Valentini, Giorgio
Publicado 2017

Alternate-locus aware variant calling in whole genome sequencing

por Jäger, Marten, Schubach, Max, Zemojtel, Tomasz, Reinert, Knut, Church, Deanna M., Robinson, Peter N.
Publicado 2016

Boosting tissue-specific prediction of active cis-regulatory regions through deep learning and Bayesian optimization techniques

por Cappelletti, Luca, Petrini, Alessandro, Gliozzo, Jessica, Casiraghi, Elena, Schubach, Max, Kircher, Martin, Valentini, Giorgio
Publicado 2022

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
Publicado 2019

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
Publicado 2020

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
Publicado 2018

Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types

por Agarwal, Vikram, Inoue, Fumitaka, Schubach, Max, Martin, Beth K., Dash, Pyaree Mohan, Zhang, Zicong, Sohota, Ajuni, Noble, William Stafford, Yardimci, Galip Gürkan, Kircher, Martin, Shendure, Jay, Ahituv, Nadav
Publicado 2023

Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations

por Peveling-Oberhag, Jan, Wolters, Franziska, Döring, Claudia, Walter, Dirk, Sellmann, Ludger, Scholtysik, René, Lucioni, Marco, Schubach, Max, Paulli, Marco, Biskup, Saskia, Zeuzem, Stefan, Küppers, Ralf, Hansmann, Martin-Leo
Publicado 2015

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
Publicado 2018

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
Publicado 2022

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

por Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd
Publicado 2016

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.
Publicado 2018

PEDIA: prioritization of exome data by image analysis

por Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2019

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014