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The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell

Genome wide association studies are central to the evolution of personalized medicine. However, the propensity for single nucleotide polymorphisms (SNPs) to fall outside of genes means that understanding how these polymorphisms alter cellular function requires an expanded view of human genetics. Int...

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Detalles Bibliográficos
Autores principales: Schierding, William, Cutfield, Wayne S., O'Sullivan, Justin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927098/
https://www.ncbi.nlm.nih.gov/pubmed/24600475
http://dx.doi.org/10.3389/fgene.2014.00039
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author Schierding, William
Cutfield, Wayne S.
O'Sullivan, Justin M.
author_facet Schierding, William
Cutfield, Wayne S.
O'Sullivan, Justin M.
author_sort Schierding, William
collection PubMed
description Genome wide association studies are central to the evolution of personalized medicine. However, the propensity for single nucleotide polymorphisms (SNPs) to fall outside of genes means that understanding how these polymorphisms alter cellular function requires an expanded view of human genetics. Integrating the study of genome structure (chromosome conformation capture) into its function opens up new avenues of exploration. Changes in the epigenome associated with SNPs in gene deserts will allow us to define complex diseases in a much clearer manner, and usher in a new era of disease pathway exploration.
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spelling pubmed-39270982014-03-05 The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell Schierding, William Cutfield, Wayne S. O'Sullivan, Justin M. Front Genet Genetics Genome wide association studies are central to the evolution of personalized medicine. However, the propensity for single nucleotide polymorphisms (SNPs) to fall outside of genes means that understanding how these polymorphisms alter cellular function requires an expanded view of human genetics. Integrating the study of genome structure (chromosome conformation capture) into its function opens up new avenues of exploration. Changes in the epigenome associated with SNPs in gene deserts will allow us to define complex diseases in a much clearer manner, and usher in a new era of disease pathway exploration. Frontiers Media S.A. 2014-02-18 /pmc/articles/PMC3927098/ /pubmed/24600475 http://dx.doi.org/10.3389/fgene.2014.00039 Text en Copyright © 2014 Schierding, Cutfield and O'Sullivan. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Schierding, William
Cutfield, Wayne S.
O'Sullivan, Justin M.
The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title_full The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title_fullStr The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title_full_unstemmed The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title_short The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
title_sort missing story behind genome wide association studies: single nucleotide polymorphisms in gene deserts have a story to tell
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927098/
https://www.ncbi.nlm.nih.gov/pubmed/24600475
http://dx.doi.org/10.3389/fgene.2014.00039
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