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Using genetically isolated populations to understand the genomic basis of disease
Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approache...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254420/ https://www.ncbi.nlm.nih.gov/pubmed/25473423 http://dx.doi.org/10.1186/s13073-014-0083-5 |
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author | Zeggini, Eleftheria |
author_facet | Zeggini, Eleftheria |
author_sort | Zeggini, Eleftheria |
collection | PubMed |
description | Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approaches coupled with sequencing efforts have transformed the landscape of disease genomics and highlight the potentially significant contribution of studies in founder populations. |
format | Online Article Text |
id | pubmed-4254420 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-42544202014-12-04 Using genetically isolated populations to understand the genomic basis of disease Zeggini, Eleftheria Genome Med Research Highlight Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approaches coupled with sequencing efforts have transformed the landscape of disease genomics and highlight the potentially significant contribution of studies in founder populations. BioMed Central 2014-10-17 /pmc/articles/PMC4254420/ /pubmed/25473423 http://dx.doi.org/10.1186/s13073-014-0083-5 Text en © Zeggini; licensee BioMed Central Ltd. 2014 The licensee has exclusive rights to distribute this article, in any medium, for 12 months following its publication. After this time, the article is available under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Highlight Zeggini, Eleftheria Using genetically isolated populations to understand the genomic basis of disease |
title | Using genetically isolated populations to understand the genomic basis of disease |
title_full | Using genetically isolated populations to understand the genomic basis of disease |
title_fullStr | Using genetically isolated populations to understand the genomic basis of disease |
title_full_unstemmed | Using genetically isolated populations to understand the genomic basis of disease |
title_short | Using genetically isolated populations to understand the genomic basis of disease |
title_sort | using genetically isolated populations to understand the genomic basis of disease |
topic | Research Highlight |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254420/ https://www.ncbi.nlm.nih.gov/pubmed/25473423 http://dx.doi.org/10.1186/s13073-014-0083-5 |
work_keys_str_mv | AT zegginieleftheria usinggeneticallyisolatedpopulationstounderstandthegenomicbasisofdisease |