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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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. |
format | Online Article Text |
id | pubmed-4045967 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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