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EpiVar Browser: advanced exploration of epigenomics data under controlled access

MOTIVATION: Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these...

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Autores principales: Lougheed, David R, Liu, Hanshi, Aracena, Katherine A, Grégoire, Romain, Pacis, Alain, Pastinen, Tomi, Barreiro, Luis B, Joly, Yann, Bujold, David, Bourque, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418203/
https://www.ncbi.nlm.nih.gov/pubmed/37577719
http://dx.doi.org/10.1101/2023.08.03.551309
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author Lougheed, David R
Liu, Hanshi
Aracena, Katherine A
Grégoire, Romain
Pacis, Alain
Pastinen, Tomi
Barreiro, Luis B
Joly, Yann
Bujold, David
Bourque, Guillaume
author_facet Lougheed, David R
Liu, Hanshi
Aracena, Katherine A
Grégoire, Romain
Pacis, Alain
Pastinen, Tomi
Barreiro, Luis B
Joly, Yann
Bujold, David
Bourque, Guillaume
author_sort Lougheed, David R
collection PubMed
description MOTIVATION: Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these consortia are stored in controlled-access databases. It is important to protect identifiable information, but this should not hinder secure sharing of these valuable datasets. RESULTS: Guided by the Framework for responsible sharing of genomic and health-related data from the Global Alliance for Genomics and Health (GA4GH), we have developed a tool to facilitate the exploration of epigenomics datasets’ aggregate results, while filtering out identifiable information. Specifically, the EpiVar Browser allows a user to navigate an epigenetic dataset from a cohort of individuals and enables direct exploration of genotype-chromatin phenotype relationships. Because the information about individual genotypes is not accessible and aggregated in the output that is made available, no identifiable data is released, yet the interface allows for dynamic genotype - epigenome interrogation. This approach has the potential to accelerate analyses that would otherwise require a lengthy multi-step approval process and provides a generalisable strategy to facilitate responsible access to sensitive epigenomics data. AVAILABILITY AND IMPLEMENTATION: Online portal instance: https://computationalgenomics.ca/tools/epivar Source code: https://github.com/c3g/epivar-browser
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spelling pubmed-104182032023-08-12 EpiVar Browser: advanced exploration of epigenomics data under controlled access Lougheed, David R Liu, Hanshi Aracena, Katherine A Grégoire, Romain Pacis, Alain Pastinen, Tomi Barreiro, Luis B Joly, Yann Bujold, David Bourque, Guillaume bioRxiv Article MOTIVATION: Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these consortia are stored in controlled-access databases. It is important to protect identifiable information, but this should not hinder secure sharing of these valuable datasets. RESULTS: Guided by the Framework for responsible sharing of genomic and health-related data from the Global Alliance for Genomics and Health (GA4GH), we have developed a tool to facilitate the exploration of epigenomics datasets’ aggregate results, while filtering out identifiable information. Specifically, the EpiVar Browser allows a user to navigate an epigenetic dataset from a cohort of individuals and enables direct exploration of genotype-chromatin phenotype relationships. Because the information about individual genotypes is not accessible and aggregated in the output that is made available, no identifiable data is released, yet the interface allows for dynamic genotype - epigenome interrogation. This approach has the potential to accelerate analyses that would otherwise require a lengthy multi-step approval process and provides a generalisable strategy to facilitate responsible access to sensitive epigenomics data. AVAILABILITY AND IMPLEMENTATION: Online portal instance: https://computationalgenomics.ca/tools/epivar Source code: https://github.com/c3g/epivar-browser Cold Spring Harbor Laboratory 2023-08-05 /pmc/articles/PMC10418203/ /pubmed/37577719 http://dx.doi.org/10.1101/2023.08.03.551309 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which allows reusers to copy and distribute the material in any medium or format in unadapted form only, for noncommercial purposes only, and only so long as attribution is given to the creator.
spellingShingle Article
Lougheed, David R
Liu, Hanshi
Aracena, Katherine A
Grégoire, Romain
Pacis, Alain
Pastinen, Tomi
Barreiro, Luis B
Joly, Yann
Bujold, David
Bourque, Guillaume
EpiVar Browser: advanced exploration of epigenomics data under controlled access
title EpiVar Browser: advanced exploration of epigenomics data under controlled access
title_full EpiVar Browser: advanced exploration of epigenomics data under controlled access
title_fullStr EpiVar Browser: advanced exploration of epigenomics data under controlled access
title_full_unstemmed EpiVar Browser: advanced exploration of epigenomics data under controlled access
title_short EpiVar Browser: advanced exploration of epigenomics data under controlled access
title_sort epivar browser: advanced exploration of epigenomics data under controlled access
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418203/
https://www.ncbi.nlm.nih.gov/pubmed/37577719
http://dx.doi.org/10.1101/2023.08.03.551309
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