Genome alignment with graph data structures: a comparison

por Kehr, Birte, Trappe, Kathrin, Holtgrewe, Manuel, Reinert, Knut
Publicado 2014

DigestiFlow: from BCL to FASTQ with ease

por Holtgrewe, Manuel, Messerschmidt, Clemens, Nieminen, Mikko, Beule, Dieter
Publicado 2020

A novel and well-defined benchmarking method for second generation read mapping

por Holtgrewe, Manuel, Emde, Anne-Katrin, Weese, David, Reinert, Knut
Publicado 2011

SCelVis: exploratory single cell data analysis on the desktop and in the cloud

por Obermayer, Benedikt, Holtgrewe, Manuel, Nieminen, Mikko, Messerschmidt, Clemens, Beule, Dieter
Publicado 2020

SODAR: managing multiomics study data and metadata

por Nieminen, Mikko, Stolpe, Oliver, Kuhring, Mathias, Weiner, January, Pett, Patrick, Beule, Dieter, Holtgrewe, Manuel
Publicado 2023

Identification and ranking of recurrent neo-epitopes in cancer

por Blanc, Eric, Holtgrewe, Manuel, Dhamodaran, Arunraj, Messerschmidt, Clemens, Willimsky, Gerald, Blankenstein, Thomas, Beule, Dieter
Publicado 2019

Fiona: a parallel and automatic strategy for read error correction

por Schulz, Marcel H., Weese, David, Holtgrewe, Manuel, Dimitrova, Viktoria, Niu, Sijia, Reinert, Knut, Richard, Hugues
Publicado 2014

Investigating APOE, APP-Aβ metabolism genes and Alzheimer’s disease GWAS hits in brain small vessel ischemic disease

por Blumenau, Sonja, Foddis, Marco, Müller, Susanne, Holtgrewe, Manuel, Bentele, Kajetan, Berchtold, Daniel, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste
Publicado 2020

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

por Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A., Sczakiel, Henrike L., Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn
Publicado 2022

Combining callers improves the detection of copy number variants from whole-genome sequencing

por Coutelier, Marie, Holtgrewe, Manuel, Jäger, Marten, Flöttman, Ricarda, Mensah, Martin A., Spielmann, Malte, Krawitz, Peter, Horn, Denise, Beule, Dieter, Mundlos, Stefan
Publicado 2021

VarFish: comprehensive DNA variant analysis for diagnostics and research

por Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter
Publicado 2020

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis—Further Impact of Heterozygous Immune Disorder Gene Variants?

por Seidel, Franziska, Laser, Kai Thorsten, Klingel, Karin, Dartsch, Josephine, Theisen, Simon, Pickardt, Thomas, Holtgrewe, Manuel, Gärtner, Anna, Berger, Felix, Beule, Dieter, Milting, Hendrik, Schubert, Stephan, Klaassen, Sabine, Kühnisch, Jirko
Publicado 2022

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis

por Seidel, Franziska, Holtgrewe, Manuel, Al-Wakeel-Marquard, Nadya, Opgen-Rhein, Bernd, Dartsch, Josephine, Herbst, Christopher, Beule, Dieter, Pickardt, Thomas, Klingel, Karin, Messroghli, Daniel, Berger, Felix, Schubert, Stephan, Kühnisch, Jirko, Klaassen, Sabine
Publicado 2021

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

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

por Neitzel, Heidemarie, Varon, Raymonda, Chughtai, Sana, Dartsch, Josephine, Dutrannoy-Tönsing, Véronique, Nürnberg, Peter, Nürnberg, Gudrun, Schweiger, Michal, Digweed, Martin, Hildebrand, Gabriele, Hackmann, Karl, Holtgrewe, Manuel, Sarioglu, Nanette, Schulze, Bernt, Horn, Denise, Sperling, Karl
Publicado 2022

Sustainable data analysis with Snakemake

por Mölder, Felix, Jablonski, Kim Philipp, Letcher, Brice, Hall, Michael B., Tomkins-Tinch, Christopher H., Sochat, Vanessa, Forster, Jan, Lee, Soohyun, Twardziok, Sven O., Kanitz, Alexander, Wilm, Andreas, Holtgrewe, Manuel, Rahmann, Sven, Nahnsen, Sven, Köster, Johannes
Publicado 2021

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

por Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R, Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix
Publicado 2022

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

por Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn
Publicado 2021

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

por Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.
Publicado 2022

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

por Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel
Publicado 2021