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Population genetic considerations for using biobanks as international resources in the pandemic era and beyond
The past years have seen the rise of genomic biobanks and mega-scale meta-analysis of genomic data, which promises to reveal the genetic underpinnings of health and disease. However, the over-representation of Europeans in genomic studies not only limits the global understanding of disease risk but...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8127217/ https://www.ncbi.nlm.nih.gov/pubmed/34001009 http://dx.doi.org/10.1186/s12864-021-07618-x |
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author | Carress, Hannah Lawson, Daniel John Elhaik, Eran |
author_facet | Carress, Hannah Lawson, Daniel John Elhaik, Eran |
author_sort | Carress, Hannah |
collection | PubMed |
description | The past years have seen the rise of genomic biobanks and mega-scale meta-analysis of genomic data, which promises to reveal the genetic underpinnings of health and disease. However, the over-representation of Europeans in genomic studies not only limits the global understanding of disease risk but also inhibits viable research into the genomic differences between carriers and patients. Whilst the community has agreed that more diverse samples are required, it is not enough to blindly increase diversity; the diversity must be quantified, compared and annotated to lead to insight. Genetic annotations from separate biobanks need to be comparable and computable and to operate without access to raw data due to privacy concerns. Comparability is key both for regular research and to allow international comparison in response to pandemics. Here, we evaluate the appropriateness of the most common genomic tools used to depict population structure in a standardized and comparable manner. The end goal is to reduce the effects of confounding and learn from genuine variation in genetic effects on phenotypes across populations, which will improve the value of biobanks (locally and internationally), increase the accuracy of association analyses and inform developmental efforts. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-07618-x. |
format | Online Article Text |
id | pubmed-8127217 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-81272172021-05-17 Population genetic considerations for using biobanks as international resources in the pandemic era and beyond Carress, Hannah Lawson, Daniel John Elhaik, Eran BMC Genomics Review The past years have seen the rise of genomic biobanks and mega-scale meta-analysis of genomic data, which promises to reveal the genetic underpinnings of health and disease. However, the over-representation of Europeans in genomic studies not only limits the global understanding of disease risk but also inhibits viable research into the genomic differences between carriers and patients. Whilst the community has agreed that more diverse samples are required, it is not enough to blindly increase diversity; the diversity must be quantified, compared and annotated to lead to insight. Genetic annotations from separate biobanks need to be comparable and computable and to operate without access to raw data due to privacy concerns. Comparability is key both for regular research and to allow international comparison in response to pandemics. Here, we evaluate the appropriateness of the most common genomic tools used to depict population structure in a standardized and comparable manner. The end goal is to reduce the effects of confounding and learn from genuine variation in genetic effects on phenotypes across populations, which will improve the value of biobanks (locally and internationally), increase the accuracy of association analyses and inform developmental efforts. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-07618-x. BioMed Central 2021-05-17 /pmc/articles/PMC8127217/ /pubmed/34001009 http://dx.doi.org/10.1186/s12864-021-07618-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Carress, Hannah Lawson, Daniel John Elhaik, Eran Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title | Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title_full | Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title_fullStr | Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title_full_unstemmed | Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title_short | Population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
title_sort | population genetic considerations for using biobanks as international resources in the pandemic era and beyond |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8127217/ https://www.ncbi.nlm.nih.gov/pubmed/34001009 http://dx.doi.org/10.1186/s12864-021-07618-x |
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