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      RGT: a toolbox for the integrative analysis of high throughput regulatory genomics data

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          Abstract

          Background

          Massive amounts of data are produced by combining next-generation sequencing with complex biochemistry techniques to characterize regulatory genomics profiles, such as protein–DNA interaction and chromatin accessibility. Interpretation of such high-throughput data typically requires different computation methods. However, existing tools are usually developed for a specific task, which makes it challenging to analyze the data in an integrative manner.

          Results

          We here describe the Regulatory Genomics Toolbox (RGT), a computational library for the integrative analysis of regulatory genomics data. RGT provides different functionalities to handle genomic signals and regions. Based on that, we developed several tools to perform distinct downstream analyses, including the prediction of transcription factor binding sites using ATAC-seq data, identification of differential peaks from ChIP-seq data, and detection of triple helix mediated RNA and DNA interactions, visualization, and finding an association between distinct regulatory factors.

          Conclusion

          We present here RGT; a framework to facilitate the customization of computational methods to analyze genomic data for specific regulatory genomics problems. RGT is a comprehensive and flexible Python package for analyzing high throughput regulatory genomics data and is available at: https://github.com/CostaLab/reg-gen. The documentation is available at: https://reg-gen.readthedocs.io

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          Most cited references41

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          Fast and accurate long-read alignment with Burrows–Wheeler transform

          Motivation: Many programs for aligning short sequencing reads to a reference genome have been developed in the last 2 years. Most of them are very efficient for short reads but inefficient or not applicable for reads >200 bp because the algorithms are heavily and specifically tuned for short queries with low sequencing error rate. However, some sequencing platforms already produce longer reads and others are expected to become available soon. For longer reads, hashing-based software such as BLAT and SSAHA2 remain the only choices. Nonetheless, these methods are substantially slower than short-read aligners in terms of aligned bases per unit time. Results: We designed and implemented a new algorithm, Burrows-Wheeler Aligner's Smith-Waterman Alignment (BWA-SW), to align long sequences up to 1 Mb against a large sequence database (e.g. the human genome) with a few gigabytes of memory. The algorithm is as accurate as SSAHA2, more accurate than BLAT, and is several to tens of times faster than both. Availability: http://bio-bwa.sourceforge.net Contact: rd@sanger.ac.uk
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            deepTools2: a next generation web server for deep-sequencing data analysis

            We present an update to our Galaxy-based web server for processing and visualizing deeply sequenced data. Its core tool set, deepTools, allows users to perform complete bioinformatic workflows ranging from quality controls and normalizations of aligned reads to integrative analyses, including clustering and visualization approaches. Since we first described our deepTools Galaxy server in 2014, we have implemented new solutions for many requests from the community and our users. Here, we introduce significant enhancements and new tools to further improve data visualization and interpretation. deepTools continue to be open to all users and freely available as a web service at deeptools.ie-freiburg.mpg.de. The new deepTools2 suite can be easily deployed within any Galaxy framework via the toolshed repository, and we also provide source code for command line usage under Linux and Mac OS X. A public and documented API for access to deepTools functionality is also available.
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              Twelve years of SAMtools and BCFtools

              Abstract Background SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant calling, and effect analysis amongst other methods. Findings The first version appeared online 12 years ago and has been maintained and further developed ever since, with many new features and improvements added over the years. The SAMtools and BCFtools packages represent a unique collection of tools that have been used in numerous other software projects and countless genomic pipelines. Conclusion Both SAMtools and BCFtools are freely available on GitHub under the permissive MIT licence, free for both non-commercial and commercial use. Both packages have been installed >1 million times via Bioconda. The source code and documentation are available from https://www.htslib.org.
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                Author and article information

                Contributors
                zhijian.li@rwth-aachen.de
                ivan.costa@rwth-aachen.de
                Journal
                BMC Bioinformatics
                BMC Bioinformatics
                BMC Bioinformatics
                BioMed Central (London )
                1471-2105
                6 March 2023
                6 March 2023
                2023
                : 24
                : 79
                Affiliations
                [1 ]GRID grid.1957.a, ISNI 0000 0001 0728 696X, Institute for Computational Genomics, Medical Faculty, , RWTH Aachen University, ; 52074 Aachen, Germany
                [2 ]GRID grid.412301.5, ISNI 0000 0000 8653 1507, Joint Research Center for Computational Biomedicine, , RWTH Aachen University Hospital, ; 52074 Aachen, Germany
                [3 ]GRID grid.1957.a, ISNI 0000 0001 0728 696X, Department of Cell Biology, Institute of Biomedical Engineering, , RWTH Aachen University Medical School, ; 52074 Aachen, Germany
                [4 ]GRID grid.1957.a, ISNI 0000 0001 0728 696X, Helmholtz Institute for Biomedical Engineering, , RWTH Aachen University, ; 52074 Aachen, Germany
                [5 ]GRID grid.1957.a, ISNI 0000 0001 0728 696X, Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, , RWTH Aachen University, ; 52074 Aachen, Germany
                Article
                5184
                10.1186/s12859-023-05184-5
                9990262
                36879236
                d5ac57b6-9c37-4463-98ec-0670512ec1a4
                © The Author(s) 2023

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                : 31 December 2022
                : 13 February 2023
                Funding
                Funded by: RWTH Aachen University (3131)
                Categories
                Software
                Custom metadata
                © The Author(s) 2023

                Bioinformatics & Computational biology
                regulatory genomics,motif analysis,intersection algebra,visualization,footprinting,differential peaks

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