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Recommendations for the FAIRification of genomic track metadata

Background: Many types of data from genomic analyses can be represented as genomic tracks, i.e. features linked to the genomic coordinates of a reference genome. Examples of such data are epigenetic DNA methylation data, ChIP-seq peaks, germline or somatic DNA variants, as well as RNA-seq expression...

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Autores principales: Gundersen, Sveinung, Boddu, Sanjay, Capella-Gutierrez, Salvador, Drabløs, Finn, Fernández, José M., Kompova, Radmila, Taylor, Kieron, Titov, Dmytro, Zerbino, Daniel, Hovig, Eivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226415/
https://www.ncbi.nlm.nih.gov/pubmed/34249331
http://dx.doi.org/10.12688/f1000research.28449.1
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author Gundersen, Sveinung
Boddu, Sanjay
Capella-Gutierrez, Salvador
Drabløs, Finn
Fernández, José M.
Kompova, Radmila
Taylor, Kieron
Titov, Dmytro
Zerbino, Daniel
Hovig, Eivind
author_facet Gundersen, Sveinung
Boddu, Sanjay
Capella-Gutierrez, Salvador
Drabløs, Finn
Fernández, José M.
Kompova, Radmila
Taylor, Kieron
Titov, Dmytro
Zerbino, Daniel
Hovig, Eivind
author_sort Gundersen, Sveinung
collection PubMed
description Background: Many types of data from genomic analyses can be represented as genomic tracks, i.e. features linked to the genomic coordinates of a reference genome. Examples of such data are epigenetic DNA methylation data, ChIP-seq peaks, germline or somatic DNA variants, as well as RNA-seq expression levels. Researchers often face difficulties in locating, accessing and combining relevant tracks from external sources, as well as locating the raw data, reducing the value of the generated information. Description of work: We propose to advance the application of FAIR data principles (Findable, Accessible, Interoperable, and Reusable) to produce searchable metadata for genomic tracks. Findability and Accessibility of metadata can then be ensured by a track search service that integrates globally identifiable metadata from various track hubs in the Track Hub Registry and other relevant repositories. Interoperability and Reusability need to be ensured by the specification and implementation of a basic set of recommendations for metadata. We have tested this concept by developing such a specification in a JSON Schema, called FAIRtracks, and have integrated it into a novel track search service, called TrackFind. We demonstrate practical usage by importing datasets through TrackFind into existing examples of relevant analytical tools for genomic tracks: EPICO and the GSuite HyperBrowser. Conclusion: We here provide a first iteration of a draft standard for genomic track metadata, as well as the accompanying software ecosystem. It can easily be adapted or extended to future needs of the research community regarding data, methods and tools, balancing the requirements of both data submitters and analytical end-users.
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spelling pubmed-82264152021-07-08 Recommendations for the FAIRification of genomic track metadata Gundersen, Sveinung Boddu, Sanjay Capella-Gutierrez, Salvador Drabløs, Finn Fernández, José M. Kompova, Radmila Taylor, Kieron Titov, Dmytro Zerbino, Daniel Hovig, Eivind F1000Res Opinion Article Background: Many types of data from genomic analyses can be represented as genomic tracks, i.e. features linked to the genomic coordinates of a reference genome. Examples of such data are epigenetic DNA methylation data, ChIP-seq peaks, germline or somatic DNA variants, as well as RNA-seq expression levels. Researchers often face difficulties in locating, accessing and combining relevant tracks from external sources, as well as locating the raw data, reducing the value of the generated information. Description of work: We propose to advance the application of FAIR data principles (Findable, Accessible, Interoperable, and Reusable) to produce searchable metadata for genomic tracks. Findability and Accessibility of metadata can then be ensured by a track search service that integrates globally identifiable metadata from various track hubs in the Track Hub Registry and other relevant repositories. Interoperability and Reusability need to be ensured by the specification and implementation of a basic set of recommendations for metadata. We have tested this concept by developing such a specification in a JSON Schema, called FAIRtracks, and have integrated it into a novel track search service, called TrackFind. We demonstrate practical usage by importing datasets through TrackFind into existing examples of relevant analytical tools for genomic tracks: EPICO and the GSuite HyperBrowser. Conclusion: We here provide a first iteration of a draft standard for genomic track metadata, as well as the accompanying software ecosystem. It can easily be adapted or extended to future needs of the research community regarding data, methods and tools, balancing the requirements of both data submitters and analytical end-users. F1000 Research Limited 2021-04-01 /pmc/articles/PMC8226415/ /pubmed/34249331 http://dx.doi.org/10.12688/f1000research.28449.1 Text en Copyright: © 2021 Gundersen S et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Opinion Article
Gundersen, Sveinung
Boddu, Sanjay
Capella-Gutierrez, Salvador
Drabløs, Finn
Fernández, José M.
Kompova, Radmila
Taylor, Kieron
Titov, Dmytro
Zerbino, Daniel
Hovig, Eivind
Recommendations for the FAIRification of genomic track metadata
title Recommendations for the FAIRification of genomic track metadata
title_full Recommendations for the FAIRification of genomic track metadata
title_fullStr Recommendations for the FAIRification of genomic track metadata
title_full_unstemmed Recommendations for the FAIRification of genomic track metadata
title_short Recommendations for the FAIRification of genomic track metadata
title_sort recommendations for the fairification of genomic track metadata
topic Opinion Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226415/
https://www.ncbi.nlm.nih.gov/pubmed/34249331
http://dx.doi.org/10.12688/f1000research.28449.1
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