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Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank

Recently, the development of biobanks linked to electronic medical records has presented new opportunities for genetic and epidemiological research. Studies based on these resources, however, present unique challenges, including the accurate assignment of individual-level population ancestry. In thi...

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Detalles Bibliográficos
Autores principales: Hall, Jacob B., Dumitrescu, Logan, Dilks, Holli H., Crawford, Dana C., Bush, William S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045967/
https://www.ncbi.nlm.nih.gov/pubmed/24896101
http://dx.doi.org/10.1371/journal.pone.0099161
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author Hall, Jacob B.
Dumitrescu, Logan
Dilks, Holli H.
Crawford, Dana C.
Bush, William S.
author_facet Hall, Jacob B.
Dumitrescu, Logan
Dilks, Holli H.
Crawford, Dana C.
Bush, William S.
author_sort Hall, Jacob B.
collection PubMed
description Recently, the development of biobanks linked to electronic medical records has presented new opportunities for genetic and epidemiological research. Studies based on these resources, however, present unique challenges, including the accurate assignment of individual-level population ancestry. In this work we examine the accuracy of administratively-assigned race in diverse populations by comparing assigned races to genetically-defined ancestry estimates. Using 220 ancestry informative markers, we generated principal components for patients in our dataset, which were used to cluster patients into groups based on genetic ancestry. Consistent with other studies, we find a strong overall agreement (Kappa  = 0.872) between genetic ancestry and assigned race, with higher rates of agreement for African-descent and European-descent assignments, and reduced agreement for Hispanic, East Asian-descent, and South Asian-descent assignments. These results suggest caution when selecting study samples of non-African and non-European backgrounds when administratively-assigned race from biobanks is used.
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spelling pubmed-40459672014-06-09 Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank Hall, Jacob B. Dumitrescu, Logan Dilks, Holli H. Crawford, Dana C. Bush, William S. PLoS One Research Article Recently, the development of biobanks linked to electronic medical records has presented new opportunities for genetic and epidemiological research. Studies based on these resources, however, present unique challenges, including the accurate assignment of individual-level population ancestry. In this work we examine the accuracy of administratively-assigned race in diverse populations by comparing assigned races to genetically-defined ancestry estimates. Using 220 ancestry informative markers, we generated principal components for patients in our dataset, which were used to cluster patients into groups based on genetic ancestry. Consistent with other studies, we find a strong overall agreement (Kappa  = 0.872) between genetic ancestry and assigned race, with higher rates of agreement for African-descent and European-descent assignments, and reduced agreement for Hispanic, East Asian-descent, and South Asian-descent assignments. These results suggest caution when selecting study samples of non-African and non-European backgrounds when administratively-assigned race from biobanks is used. Public Library of Science 2014-06-04 /pmc/articles/PMC4045967/ /pubmed/24896101 http://dx.doi.org/10.1371/journal.pone.0099161 Text en © 2014 Hall et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Hall, Jacob B.
Dumitrescu, Logan
Dilks, Holli H.
Crawford, Dana C.
Bush, William S.
Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title_full Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title_fullStr Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title_full_unstemmed Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title_short Accuracy of Administratively-Assigned Ancestry for Diverse Populations in an Electronic Medical Record-Linked Biobank
title_sort accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045967/
https://www.ncbi.nlm.nih.gov/pubmed/24896101
http://dx.doi.org/10.1371/journal.pone.0099161
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