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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2014
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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. |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-4198915 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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