OGRE: calculate, visualize, and analyze overlap between genomic input regions and public annotations

Background: Modern genome sequencing leads to an ever-growing collection of genomic annotations. Combining these elements with a set of input regions (e.g. genes) would yield new insights in genomic associations, such as those involved in gene regulation. The required data are scattered across diffe...

Verfasser: Berres, Sven
Gromoll, Jörg
Wöste, Marius
Sandmann, Sarah
Laurentino, Sandra
FB/Einrichtung:FB 05: Medizinische Fakultät
Dokumenttypen:Artikel
Medientypen:Text
Erscheinungsdatum:2023
Publikation in MIAMI:27.11.2024
Datum der letzten Änderung:27.11.2024
Angaben zur Ausgabe:[Electronic ed.]
Quelle:BMC Bioinformatics 24 (2023), 300, 1-14
Schlagwörter:Annotation; Genomic association; Genomic regions; Omics; Overlap; Regulatory elements; Shiny; Visualization
Fachgebiet (DDC):000: Informatik, Wissen, Systeme
610: Medizin und Gesundheit
Lizenz:CC BY 4.0
Sprache:Englisch
Förderung:Finanziert über die DEAL-Vereinbarung mit Wiley, Springer oder Elsevier 2019–2023.
Format:PDF-Dokument
URN:urn:nbn:de:hbz:6-24978736973
Weitere Identifikatoren:DOI: 10.17879/34978656530
Permalink:https://nbn-resolving.de/urn:nbn:de:hbz:6-24978736973
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    Background: Modern genome sequencing leads to an ever-growing collection of genomic annotations. Combining these elements with a set of input regions (e.g. genes) would yield new insights in genomic associations, such as those involved in gene regulation. The required data are scattered across different databases making a manual approach tiresome, unpractical, and prone to error. Semi-automatic approaches require programming skills in data parsing, processing, overlap calculation, and visualization, which most biomedical researchers lack. Our aim was to develop an automated tool providing all necessary algorithms, benefiting both bioinformaticians and researchers without bioinformatic training. Results: We developed overlapping annotated genomic regions (OGRE) as a comprehensive tool to associate and visualize input regions with genomic annotations. It does so by parsing regions of interest, mining publicly available annotations, and calculating possible overlaps between them. The user can thus identify location, type, and number of associated regulatory elements. Results are presented as easy to understand visualizations and result tables. We applied OGRE to recent studies and could show high reproducibility and potential new insights. To demonstrate OGRE’s performance in terms of running time and output, we have conducted a benchmark and compared its features with similar tools. Conclusions: OGRE’s functions and built-in annotations can be applied as a downstream overlap association step, which is compatible with most genomic sequencing outputs, and can thus enrich pre-existing analyses pipelines. Compared to similar tools, OGRE shows competitive performance, offers additional features, and has been successfully applied to two recent studies. Overall, OGRE addresses the lack of tools for automatic analysis, local genomic overlap calculation, and visualization by providing an easy to use, end-to-end solution for both biologists and computational scientists.