4
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Msuite: A High-Performance and Versatile DNA Methylation Data-Analysis Toolkit

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Summary

          DNA methylation is a pervasive and important epigenetic regulator in mammalian genome. For DNA methylome profiling, emerging bisulfite-free methods have demonstrated desirable superiority over the conventional bisulfite-treatment-based approaches, although current analysis software could not make full use of their advantages. In this work, we present Msuite, an easy-to-use, all-in-one data-analysis toolkit. Msuite implements a unique 4-letter analysis mode specifically optimized for emerging protocols; it also integrates quality controls, methylation call, and data visualizations. Msuite demonstrates substantial performance improvements over current state-of-the-art tools as well as fruitful functionalities, thus holding the potential to serve as an optimal toolkit to facilitate DNA methylome studies. Source codes and testing datasets for Msuite are freely available at https://github.com/hellosunking/Msuite/.

          Graphical Abstract

          Highlights

          • Msuite provides a unique 4-letter analysis mode for emerging bisulfite-free protocols

          • Msuite outperforms current tools in terms of higher accuracy and lower resource usage

          • Msuite has integrated quality control and fruitful data-visualization utilities

          • Msuite provides an all-in-one solution for DNA methylation data analysis

          The Bigger Picture

          DNA methylation is an essential epigenetic modification responsible for many biological regulation pathways. Despite the fact that various high-throughput methods have been developed for base-resolution DNA methylome profiling, DNA methylation data analysis remains a complex and challenging task. Here, we present Msuite, which has integrated quality control, read alignment, methylation call, and fruitful data-visualization functionalities, aiming to offer an all-in-one package for most of the current DNA methylation profiling assays. Msuite also provides dedicated support for emerging bisulfite-free protocols and outperforms the current tools in terms of higher accuracy and lower computational resource requirement. Hence, Msuite could serve as the optimal toolkit for DNA methylation data analysis as well as facilitating the popularization of emerging bisulfite-free protocols.

          Abstract

          Emerging bisulfite-free assays for DNA methylome profiling have raised new requirements for data-analysis tools. Here, we present Msuite, an all-in-one package for DNA methylation data analysis with a unique 4-letter analysis mode for bisulfite-free protocols. Msuite has integrated quality control, read alignment, methylation call, and data visualization, and thus could serve as an optimal toolkit for DNA methylation studies.

          Related collections

          Most cited references48

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          The Sequence Alignment/Map format and SAMtools

          Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: rd@sanger.ac.uk
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Fast gapped-read alignment with Bowtie 2.

            As the rate of sequencing increases, greater throughput is demanded from read aligners. The full-text minute index is often used to make alignment very fast and memory-efficient, but the approach is ill-suited to finding longer, gapped alignments. Bowtie 2 combines the strengths of the full-text minute index with the flexibility and speed of hardware-accelerated dynamic programming algorithms to achieve a combination of high speed, sensitivity and accuracy.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: found
              Is Open Access

              Fast and accurate short read alignment with Burrows–Wheeler transform

              Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hash table-based methods has been developed, including MAQ, which is accurate, feature rich and fast enough to align short reads from a single individual. However, MAQ does not support gapped alignment for single-end reads, which makes it unsuitable for alignment of longer reads where indels may occur frequently. The speed of MAQ is also a concern when the alignment is scaled up to the resequencing of hundreds of individuals. Results: We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps. BWA supports both base space reads, e.g. from Illumina sequencing machines, and color space reads from AB SOLiD machines. Evaluations on both simulated and real data suggest that BWA is ∼10–20× faster than MAQ, while achieving similar accuracy. In addition, BWA outputs alignment in the new standard SAM (Sequence Alignment/Map) format. Variant calling and other downstream analyses after the alignment can be achieved with the open source SAMtools software package. Availability: http://maq.sourceforge.net Contact: rd@sanger.ac.uk
                Bookmark

                Author and article information

                Contributors
                Journal
                Patterns (N Y)
                Patterns (N Y)
                Patterns
                Elsevier
                2666-3899
                15 October 2020
                13 November 2020
                15 October 2020
                : 1
                : 8
                : 100127
                Affiliations
                [1 ]Shenzhen Bay Laboratory, Shenzhen 518132, China
                [2 ]Peking University Shenzhen Graduate School, Shenzhen 518055, China
                [3 ]School of Medicine, Sun Yat-sen University, Guangzhou 510080, China
                [4 ]Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR 999077, China
                [5 ]Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, Hong Kong SAR 999077, China
                [6 ]Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR 999077, China
                Author notes
                []Corresponding author sunkun@ 123456szbl.ac.cn
                [7]

                Lead Contact

                Article
                S2666-3899(20)30168-9 100127
                10.1016/j.patter.2020.100127
                7691389
                23a1e444-e579-4fa8-85c4-b308706ed6e7
                © 2020 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 1 July 2020
                : 8 September 2020
                : 16 September 2020
                Categories
                Descriptor

                bisulfite sequencing,bisulfite-free,cpg dinucleotide,quality control,data visualization,imprinting gene

                Comments

                Comment on this article