metilene: fast and sensitive calling of differentially methylated regions from bisulfite sequencing data

The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorit...

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Published inGenome research Vol. 26; no. 2; pp. 256 - 262
Main Authors Jühling, Frank, Kretzmer, Helene, Bernhart, Stephan H., Otto, Christian, Stadler, Peter F., Hoffmann, Steve
Format Journal Article
LanguageEnglish
Published United States Cold Spring Harbor Laboratory Press 01.02.2016
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Online AccessGet full text
ISSN1088-9051
1549-5469
1549-5469
DOI10.1101/gr.196394.115

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Abstract The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorithm combined with a two-dimensional statistical test allows the detection of DMRs in large methylation experiments with multiple groups of samples in minutes rather than days using off-the-shelf hardware. metilene outperforms other state-of-the-art tools for low coverage data and can estimate missing data. Hence, metilene is a versatile tool to study the effect of epigenetic modifications in differentiation/development, tumorigenesis, and systems biology on a global, genome-wide level. Whether in the framework of international consortia with dozens of samples per group, or even without biological replicates, it produces highly significant and reliable results.
AbstractList The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorithm combined with a two-dimensional statistical test allows the detection of DMRs in large methylation experiments with multiple groups of samples in minutes rather than days using off-the-shelf hardware. metilene outperforms other state-of-the-art tools for low coverage data and can estimate missing data. Hence, metilene is a versatile tool to study the effect of epigenetic modifications in differentiation/development, tumorigenesis, and systems biology on a global, genome-wide level. Whether in the framework of international consortia with dozens of samples per group, or even without biological replicates, it produces highly significant and reliable results.The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorithm combined with a two-dimensional statistical test allows the detection of DMRs in large methylation experiments with multiple groups of samples in minutes rather than days using off-the-shelf hardware. metilene outperforms other state-of-the-art tools for low coverage data and can estimate missing data. Hence, metilene is a versatile tool to study the effect of epigenetic modifications in differentiation/development, tumorigenesis, and systems biology on a global, genome-wide level. Whether in the framework of international consortia with dozens of samples per group, or even without biological replicates, it produces highly significant and reliable results.
The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel program, metilene, to identify DMRs within whole-genome and targeted data with unrivaled specificity and sensitivity. A binary segmentation algorithm combined with a two-dimensional statistical test allows the detection of DMRs in large methylation experiments with multiple groups of samples in minutes rather than days using off-the-shelf hardware. metilene outperforms other state-of-the-art tools for low coverage data and can estimate missing data. Hence, metilene is a versatile tool to study the effect of epigenetic modifications in differentiation/development, tumorigenesis, and systems biology on a global, genome-wide level. Whether in the framework of international consortia with dozens of samples per group, or even without biological replicates, it produces highly significant and reliable results.
Author Jühling, Frank
Kretzmer, Helene
Stadler, Peter F.
Hoffmann, Steve
Bernhart, Stephan H.
Otto, Christian
AuthorAffiliation 1 Transcriptome Bioinformatics Group, LIFE - Leipzig Research Center for Civilization Diseases, University of Leipzig, 04107 Leipzig, Germany
2 Interdisciplinary Center for Bioinformatics and Bioinformatics Group, Faculty of Computer Science, University of Leipzig, 04107 Leipzig, Germany
5 Department of Theoretical Chemistry, University of Vienna, 1090 Vienna, Austria
4 Santa Fe Institute, Santa Fe, New Mexico 87501, USA
6 Max Planck Institute for Mathematics in Sciences, 04103 Leipzig, Germany
3 RNomics Group, Fraunhofer Institute for Cell Therapy and Immunology - IZI, 04103 Leipzig, Germany
AuthorAffiliation_xml – name: 1 Transcriptome Bioinformatics Group, LIFE - Leipzig Research Center for Civilization Diseases, University of Leipzig, 04107 Leipzig, Germany
– name: 2 Interdisciplinary Center for Bioinformatics and Bioinformatics Group, Faculty of Computer Science, University of Leipzig, 04107 Leipzig, Germany
– name: 3 RNomics Group, Fraunhofer Institute for Cell Therapy and Immunology - IZI, 04103 Leipzig, Germany
– name: 5 Department of Theoretical Chemistry, University of Vienna, 1090 Vienna, Austria
– name: 6 Max Planck Institute for Mathematics in Sciences, 04103 Leipzig, Germany
– name: 4 Santa Fe Institute, Santa Fe, New Mexico 87501, USA
Author_xml – sequence: 1
  givenname: Frank
  surname: Jühling
  fullname: Jühling, Frank
– sequence: 2
  givenname: Helene
  surname: Kretzmer
  fullname: Kretzmer, Helene
– sequence: 3
  givenname: Stephan H.
  surname: Bernhart
  fullname: Bernhart, Stephan H.
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– sequence: 6
  givenname: Steve
  surname: Hoffmann
  fullname: Hoffmann, Steve
BackLink https://www.ncbi.nlm.nih.gov/pubmed/26631489$$D View this record in MEDLINE/PubMed
https://hal.science/hal-02517265$$DView record in HAL
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10.1038/nature13268
10.1093/nar/gkq1017
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Snippet The detection of differentially methylated regions (DMRs) is a necessary prerequisite for characterizing different epigenetic states. We present a novel...
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SubjectTerms Algorithms
Biochemistry, Molecular Biology
Case-Control Studies
Cerebellar Neoplasms - genetics
CpG Islands
DNA Methylation
Genomics
Humans
Life Sciences
Medulloblastoma - genetics
Method
Quantitative Methods
Sequence Analysis, DNA
Software
Title metilene: fast and sensitive calling of differentially methylated regions from bisulfite sequencing data
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