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Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry. ELECTRONIC SUPPLEMENTARY MAT...

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Autores principales: Petrovski, Slavé, Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944427/
https://www.ncbi.nlm.nih.gov/pubmed/27418169
http://dx.doi.org/10.1186/s13059-016-1016-y
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author Petrovski, Slavé
Goldstein, David B.
author_facet Petrovski, Slavé
Goldstein, David B.
author_sort Petrovski, Slavé
collection PubMed
description An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13059-016-1016-y) contains supplementary material, which is available to authorized users.
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spelling pubmed-49444272016-07-15 Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine Petrovski, Slavé Goldstein, David B. Genome Biol Open Letter An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13059-016-1016-y) contains supplementary material, which is available to authorized users. BioMed Central 2016-07-14 /pmc/articles/PMC4944427/ /pubmed/27418169 http://dx.doi.org/10.1186/s13059-016-1016-y Text en © The Author(s). 2016 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
Petrovski, Slavé
Goldstein, David B.
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title_full Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title_fullStr Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title_full_unstemmed Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title_short Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
title_sort unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
topic Open Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944427/
https://www.ncbi.nlm.nih.gov/pubmed/27418169
http://dx.doi.org/10.1186/s13059-016-1016-y
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