Manuel Holtgrewe
Manuel Holtgrewe
Core Unit Bioinformatics, Berlin Institute of Health
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Sustainable data analysis with Snakemake
F Mölder, KP Jablonski, B Letcher, MB Hall, CH Tomkins-Tinch, V Sochat, ...
F1000Research 10, 2021
Bioconda: sustainable and comprehensive software distribution for the life sciences
B Grüning, R Dale, A Sjödin, BA Chapman, J Rowe, CH Tomkins-Tinch, ...
Nature methods 15 (7), 475-476, 2018
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
Mason–a read simulator for second generation sequencing data
M Holtgrewe
Technical Report FU Berlin, 2010
RazerS 3: faster, fully sensitive read mapping
D Weese, M Holtgrewe, K Reinert
Bioinformatics 28 (20), 2592-2599, 2012
Engineering a scalable high quality graph partitioner
M Holtgrewe, P Sanders, C Schulz
2010 IEEE International Symposium on Parallel & Distributed Processing …, 2010
Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases
US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ...
The American Journal of Human Genetics 106 (6), 872-884, 2020
A novel and well-defined benchmarking method for second generation read mapping
M Holtgrewe, AK Emde, D Weese, K Reinert
BMC bioinformatics 12, 1-10, 2011
Fiona: a parallel and automatic strategy for read error correction
MH Schulz, D Weese, M Holtgrewe, V Dimitrova, S Niu, K Reinert, ...
Bioinformatics 30 (17), i356-i363, 2014
Increased risk of severe clinical course of COVID-19 in carriers of HLA-C* 04: 01
J Weiner, P Suwalski, M Holtgrewe, A Rakitko, C Thibeault, M Mueller, ...
EClinicalMedicine 40, 2021
Interpretable clinical genomics with a likelihood ratio paradigm
PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ...
The American Journal of Human Genetics 107 (3), 403-417, 2020
Genome alignment with graph data structures: a comparison
B Kehr, K Trappe, M Holtgrewe, K Reinert
BMC bioinformatics 15, 1-20, 2014
VarFish: comprehensive DNA variant analysis for diagnostics and research
M Holtgrewe, O Stolpe, M Nieminen, S Mundlos, A Knaus, U Kornak, ...
Nucleic acids research 48 (W1), W162-W169, 2020
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
MD Fountain, DS Oleson, ME Rech, L Segebrecht, JV Hunter, ...
Genetics in medicine 21 (8), 1797-1807, 2019
Pathogenic variants associated with dilated cardiomyopathy predict outcome in pediatric myocarditis
F Seidel, M Holtgrewe, N Al-Wakeel-Marquard, B Opgen-Rhein, J Dartsch, ...
Circulation: Genomic and Precision Medicine 14 (4), e003250, 2021
Sustainable data analysis with Snakemake. F1000Res. 2021; 10: 33
F Mölder, KP Jablonski, B Letcher, MB Hall, CH Tomkins-Tinch, V Sochat, ...
PubMed Abstract| Publisher Full Text, 0
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
J Kühnisch, C Herbst, N Al‐Wakeel‐Marquard, J Dartsch, M Holtgrewe, ...
Clinical genetics 96 (6), 549-559, 2019
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ...
Scientific reports 8 (1), 14611, 2018
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
F Mochel, A Rastetter, B Ceulemans, K Platzer, S Yang, DN Shinde, ...
Brain 143 (12), 3564-3573, 2020
Combining callers improves the detection of copy number variants from whole-genome sequencing
M Coutelier, M Holtgrewe, M Jäger, R Flöttman, MA Mensah, ...
European Journal of Human Genetics 30 (2), 178-186, 2022
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