Search Results - Manuel Holtgrewe

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  1. 1
    RazerS 3: Faster, fully sensitive read mapping

    RazerS 3: Faster, fully sensitive read mapping by David Weese, Manuel Holtgrewe, Knut Reinert

    Published 2012
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  2. 2
    A novel and well-defined benchmarking method for second generation read mapping

    A novel and well-defined benchmarking method for second generation read mapping by Manuel Holtgrewe, Anne‐Katrin Emde, David Weese, Knut Reinert

    Published 2011
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  3. 3
    Fiona: a parallel and automatic strategy for read error correction

    Fiona: a parallel and automatic strategy for read error correction by Marcel H. Schulz, David Weese, Manuel Holtgrewe, Viktoria Dimitrova, Sijia Niu, Knut Reinert, Hugues Richard

    Published 2014
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  4. 4
    Combining callers improves the detection of copy number variants from whole-genome sequencing

    Combining callers improves the detection of copy number variants from whole-genome sequencing by Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A. Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

    Published 2021
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  5. 5
    VarFish: comprehensive DNA variant analysis for diagnostics and research

    VarFish: comprehensive DNA variant analysis for diagnostics and research by Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

    Published 2020
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  6. 6
    Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis

    Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis by Franziska Seidel, Manuel Holtgrewe, Nadya Al‐Wakeel‐Marquard, Bernd Opgen‐Rhein, Josephine Dartsch, Christopher Herbst, Dieter Beule, Thomas Pickardt, Karin Klingel, Daniel Messroghli, Felix Berger, Stephan Schubert, Jirko Kühnisch, Sabine Klaassen

    Published 2021
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  7. 7
    Next-generation diagnostics and disease-gene discovery with the Exomiser

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

    Published 2015
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  8. 8
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm by Peter N. Robinson, Vida Ravanmehr, Julius O.B. Jacobsen, Daniel Daniš, Xingmin Zhang, Leigh Carmody, Michael Gargano, Courtney Thaxton, Guy Karlebach, Justin Reese, Manuel Holtgrewe, Sebastian Köhler, Julie A. McMurry, Melissa Haendel, Damian Smedley

    Published 2020
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  9. 9
    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases by Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, Martin A. Mensah, Björn Fischer‐Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina D. Pluym, Eunice Matoso, Sérgio B. Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos‐Bieleńska, Martin Vingron, Vera M. Kalscheuer, Fabiola Quintero‐Rivera, Malte Spielmann, Stefan Mundlos

    Published 2020
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  10. 10
    Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David N. Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos‐Bieleńska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

    Published 2022
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  11. 11
    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders

    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders by Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N. Shinde, Katherine L. Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renieri, Elisa Benetti, Roberto Canitano, Quinten Waisfisz, Astrid S. Plomp, Sylvia Huisman, Golder N. Wilson, Sara Cathey, Raymond J. Louie, Daniela del Gaudio, Darrel Waggoner, Shawn Kacker, Kimberly Nugent, Elizabeth Roeder, Ange-Line Bruel, Julien Thévenon, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Frank J. Kaiser, Susanne Kamphausen, Rami Abou Jamra, Sarah Weckhuysen, Carine Dalle, Christel Depienne

    Published 2020
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  12. 12
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies by Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Published 2019
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  13. 13
    Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01

    Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01 by January Weiner, Phillip Suwalski, Manuel Holtgrewe, Alexander Rakitko, Charlotte Thibeault, Melina Müller, Dimitri Patriki, Claudia Quedenau, Ulrike Krüger, Valery Ilinsky, Iaroslav Popov, Joseph Balnis, Ariel Jaitovich, Elisa T. Helbig, Lena J. Lippert, Paula Stubbemann, Luís Miguel Real, Juan Macı́as, Juan A. Pineda, Marta Fernández‐Fuertes, Xiaomin Wang, Zehra Karadeniz, Jacopo Saccomanno, Jan-Moritz Doehn, Ralf‐Harto Hübner, Bernd Hinzmann, Salvo Mauricio, Anja Blueher, Sandra Siemann, Stjepan Jurisic, Jürg H. Beer, Jonas Rutishauser, Benedikt Wiggli, Hansruedi Schmid, Kathrin Danninger, Ronald Binder, Victor M. Corman, Barbara Mühlemann, Arjun A. Rao, Gabriela K. Fragiadakis, Eran Mick, Consortium COMET, Carolyn S. Calfee, David J. Erle, Carolyn M. Hendrickson, Kirsten N. Kangelaris, Matthew F. Krummel, Prescott G. Woodruff, Charles Langelier, Urmila Venkataramani, Féderico García, Joanna Żyła, Christian Drosten, Alice Braun, Terry C. Jones, Norbert Suttorp, Martin Witzenrath, Stefan Hippenstiel, Tomasz Żemojtel, Carsten Skurk, Wolfgang Poller, Tatiana Borodina, Study Group Pa-COVID, Stephan Ripke, Leif Erik Sander, Dieter Beule, Ulf Landmesser, Toumy Guettouche, Florian Kurth, Bettina Heidecker

    Published 2021
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  14. 14
    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings by Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude‐Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus‐Eric Ott, Markus Schülke, Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Regina C. Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro‐Gomez, Ahmad Aziz, Marcus Grobe‐Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Paweł Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee‐Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, A. Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Cordula Kiewert, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler‐Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania C. Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P. Schaaf, Michal Zawada

    Published 2024
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