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Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods of generating polygenic scores. This has been driven by the availability...

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Autores principales: Babb de Villiers, Chantal, Kroese, Mark, Moorthie, Sowmiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7591711/
https://www.ncbi.nlm.nih.gov/pubmed/32376789
http://dx.doi.org/10.1136/jmedgenet-2019-106763
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author Babb de Villiers, Chantal
Kroese, Mark
Moorthie, Sowmiya
author_facet Babb de Villiers, Chantal
Kroese, Mark
Moorthie, Sowmiya
author_sort Babb de Villiers, Chantal
collection PubMed
description The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods of generating polygenic scores. This has been driven by the availability of larger data sets, primarily from genome-wide association studies and concomitant developments in statistical methodologies. Here we provide an overview of the methodological aspects of polygenic model construction. In addition, we consider the state of the field and implications for potential applications of polygenic scores for risk estimation within healthcare.
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spelling pubmed-75917112020-10-29 Understanding polygenic models, their development and the potential application of polygenic scores in healthcare Babb de Villiers, Chantal Kroese, Mark Moorthie, Sowmiya J Med Genet Complex Traits The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods of generating polygenic scores. This has been driven by the availability of larger data sets, primarily from genome-wide association studies and concomitant developments in statistical methodologies. Here we provide an overview of the methodological aspects of polygenic model construction. In addition, we consider the state of the field and implications for potential applications of polygenic scores for risk estimation within healthcare. BMJ Publishing Group 2020-11 2020-05-06 /pmc/articles/PMC7591711/ /pubmed/32376789 http://dx.doi.org/10.1136/jmedgenet-2019-106763 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Complex Traits
Babb de Villiers, Chantal
Kroese, Mark
Moorthie, Sowmiya
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title_full Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title_fullStr Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title_full_unstemmed Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title_short Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
title_sort understanding polygenic models, their development and the potential application of polygenic scores in healthcare
topic Complex Traits
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7591711/
https://www.ncbi.nlm.nih.gov/pubmed/32376789
http://dx.doi.org/10.1136/jmedgenet-2019-106763
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