A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a fram...

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Autores principales: Morales, Joannella, Welter, Danielle, Bowler, Emily H., Cerezo, Maria, Harris, Laura W., McMahon, Aoife C., Hall, Peggy, Junkins, Heather A., Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A., MacArthur, Jacqueline A. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Open Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815218/
https://www.ncbi.nlm.nih.gov/pubmed/29448949
http://dx.doi.org/10.1186/s13059-018-1396-2
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author Morales, Joannella
Welter, Danielle
Bowler, Emily H.
Cerezo, Maria
Harris, Laura W.
McMahon, Aoife C.
Hall, Peggy
Junkins, Heather A.
Milano, Annalisa
Hastings, Emma
Malangone, Cinzia
Buniello, Annalisa
Burdett, Tony
Flicek, Paul
Parkinson, Helen
Cunningham, Fiona
Hindorff, Lucia A.
MacArthur, Jacqueline A. L.
author_facet Morales, Joannella
Welter, Danielle
Bowler, Emily H.
Cerezo, Maria
Harris, Laura W.
McMahon, Aoife C.
Hall, Peggy
Junkins, Heather A.
Milano, Annalisa
Hastings, Emma
Malangone, Cinzia
Buniello, Annalisa
Burdett, Tony
Flicek, Paul
Parkinson, Helen
Cunningham, Fiona
Hindorff, Lucia A.
MacArthur, Jacqueline A. L.
author_sort Morales, Joannella
collection PubMed
description The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13059-018-1396-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-58152182018-02-21 A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog Morales, Joannella Welter, Danielle Bowler, Emily H. Cerezo, Maria Harris, Laura W. McMahon, Aoife C. Hall, Peggy Junkins, Heather A. Milano, Annalisa Hastings, Emma Malangone, Cinzia Buniello, Annalisa Burdett, Tony Flicek, Paul Parkinson, Helen Cunningham, Fiona Hindorff, Lucia A. MacArthur, Jacqueline A. L. Genome Biol Open Letter The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13059-018-1396-2) contains supplementary material, which is available to authorized users. BioMed Central 2018-02-15 /pmc/articles/PMC5815218/ /pubmed/29448949 http://dx.doi.org/10.1186/s13059-018-1396-2 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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.
spellingShingle Open Letter
Morales, Joannella
Welter, Danielle
Bowler, Emily H.
Cerezo, Maria
Harris, Laura W.
McMahon, Aoife C.
Hall, Peggy
Junkins, Heather A.
Milano, Annalisa
Hastings, Emma
Malangone, Cinzia
Buniello, Annalisa
Burdett, Tony
Flicek, Paul
Parkinson, Helen
Cunningham, Fiona
Hindorff, Lucia A.
MacArthur, Jacqueline A. L.
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title_full A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title_fullStr A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title_full_unstemmed A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title_short A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
title_sort standardized framework for representation of ancestry data in genomics studies, with application to the nhgri-ebi gwas catalog
topic Open Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815218/
https://www.ncbi.nlm.nih.gov/pubmed/29448949
http://dx.doi.org/10.1186/s13059-018-1396-2
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