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The Impact of the Human Genome Project on Complex Disease

In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common...

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Autores principales: Cooke Bailey, Jessica N., Pericak-Vance, Margaret A., Haines, Jonathan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198915/
https://www.ncbi.nlm.nih.gov/pubmed/25032678
http://dx.doi.org/10.3390/genes5030518
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author Cooke Bailey, Jessica N.
Pericak-Vance, Margaret A.
Haines, Jonathan L.
author_facet Cooke Bailey, Jessica N.
Pericak-Vance, Margaret A.
Haines, Jonathan L.
author_sort Cooke Bailey, Jessica N.
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description In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common, complex diseases: age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), are three exemplars of the incredible impact on the elucidation of the genetic architecture of disease. The approaches used in these diseases have been successfully applied to numerous other complex diseases. For example, the heritability of AMD was confirmed upon the release of the first genome-wide association study (GWAS) along with confirmatory reports that supported the findings of that state-of-the art method, thus setting the foundation for future GWAS in other heritable diseases. Following this seminal discovery and applying it to other diseases including AD and MS, the genetic knowledge of AD expanded far beyond the well-known APOE locus and now includes more than 20 loci. MS genetics saw a similar increase beyond the HLA loci and now has more than 100 known risk loci. Ongoing and future efforts will seek to define the remaining heritability of these diseases; the next decade could very well hold the key to attaining this goal.
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spelling pubmed-41989152014-10-16 The Impact of the Human Genome Project on Complex Disease Cooke Bailey, Jessica N. Pericak-Vance, Margaret A. Haines, Jonathan L. Genes (Basel) Review In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common, complex diseases: age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), are three exemplars of the incredible impact on the elucidation of the genetic architecture of disease. The approaches used in these diseases have been successfully applied to numerous other complex diseases. For example, the heritability of AMD was confirmed upon the release of the first genome-wide association study (GWAS) along with confirmatory reports that supported the findings of that state-of-the art method, thus setting the foundation for future GWAS in other heritable diseases. Following this seminal discovery and applying it to other diseases including AD and MS, the genetic knowledge of AD expanded far beyond the well-known APOE locus and now includes more than 20 loci. MS genetics saw a similar increase beyond the HLA loci and now has more than 100 known risk loci. Ongoing and future efforts will seek to define the remaining heritability of these diseases; the next decade could very well hold the key to attaining this goal. MDPI 2014-07-16 /pmc/articles/PMC4198915/ /pubmed/25032678 http://dx.doi.org/10.3390/genes5030518 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Cooke Bailey, Jessica N.
Pericak-Vance, Margaret A.
Haines, Jonathan L.
The Impact of the Human Genome Project on Complex Disease
title The Impact of the Human Genome Project on Complex Disease
title_full The Impact of the Human Genome Project on Complex Disease
title_fullStr The Impact of the Human Genome Project on Complex Disease
title_full_unstemmed The Impact of the Human Genome Project on Complex Disease
title_short The Impact of the Human Genome Project on Complex Disease
title_sort impact of the human genome project on complex disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198915/
https://www.ncbi.nlm.nih.gov/pubmed/25032678
http://dx.doi.org/10.3390/genes5030518
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