Publications by authors named "Manuel Holtgrewe"

20Publications

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.

Am J Hum Genet 2020 09 4;107(3):403-417. Epub 2020 Aug 4.

William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

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http://dx.doi.org/10.1016/j.ajhg.2020.06.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477017PMC
September 2020

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Eur J Med Genet 2020 Sep 4;63(9):103973. Epub 2020 Jun 4.

Charité - Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103973DOI Listing
September 2020

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

Sci Rep 2020 04 28;10(1):7103. Epub 2020 Apr 28.

Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41598-020-63183-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188838PMC
April 2020

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

PeerJ 2020 19;8:e8607. Epub 2020 Feb 19.

Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.7717/peerj.8607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035868PMC
February 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 04 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
April 2020

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.

Eur J Paediatr Neurol 2020 Mar 20;25:181-186. Epub 2019 Nov 20.

Division of Neuropediatrics and Social Pediatrics, Dept. of Pediatrics, University Hospital RWTH Aachen, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2019.11.002DOI Listing
March 2020

Identification and ranking of recurrent neo-epitopes in cancer.

BMC Med Genomics 2019 11 27;12(1):171. Epub 2019 Nov 27.

Core Unit Bioinformatics, Berlin Institute of Health, Charitéplatz 1, Berlin, 10117, Germany.

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http://dx.doi.org/10.1186/s12920-019-0611-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882202PMC
November 2019

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Clin Genet 2019 12 22;96(6):549-559. Epub 2019 Oct 22.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany.

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http://dx.doi.org/10.1111/cge.13645DOI Listing
December 2019

HLA-MA: simple yet powerful matching of samples using HLA typing results.

Bioinformatics 2017 Jul;33(14):2241-2242

Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btx132DOI Listing
July 2017

Methods for the detection and assembly of novel sequence in high-throughput sequencing data.

Bioinformatics 2015 Jun 2;31(12):1904-12. Epub 2015 Feb 2.

Department of Computer Science, Freie Universität Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btv051DOI Listing
June 2015

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

Bioinformatics 2014 Sep;30(17):i356-63

'Multimodal Computing and Interaction', Saarland University & Department for Computational Biology and Applied Computing, Max Planck Institute for Informatics, Saarbrücken, 66123 Saarland, Germany, Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, 15206 PA, USA, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany, Université Pierre et Marie Curie, UMR7238, CNRS-UPMC, Paris, France and CNRS, UMR7238, Laboratory of Computational and Quantitative Biology, Paris, France 'Multimodal Computing and Interaction', Saarland University & Department for Computational Biology and Applied Computing, Max Planck Institute for Informatics, Saarbrücken, 66123 Saarland, Germany, Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, 15206 PA, USA, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany, Université Pierre et Marie Curie, UMR7238, CNRS-UPMC, Paris, France and CNRS, UMR7238, Laboratory of Computational and Quantitative Biology, Paris, France.

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http://dx.doi.org/10.1093/bioinformatics/btu440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147893PMC
September 2014

Genome alignment with graph data structures: a comparison.

BMC Bioinformatics 2014 Apr 9;15:99. Epub 2014 Apr 9.

Department of Computer Science, Freie Universität Berlin, Takustr, 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1186/1471-2105-15-99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4020321PMC
April 2014

RazerS 3: faster, fully sensitive read mapping.

Bioinformatics 2012 Oct 24;28(20):2592-9. Epub 2012 Aug 24.

Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts505DOI Listing
October 2012

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

BMC Bioinformatics 2011 May 26;12:210. Epub 2011 May 26.

Department of Computer Science, Free University of Berlin, Takustr, Germany.

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http://dx.doi.org/10.1186/1471-2105-12-210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3128034PMC
May 2011