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HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
The resolution of genome-wide association studies (GWAS) is limited by the linkage disequilibrium (LD) structure of the population being studied. Selecting the most likely causal variants within an LD block is relatively straightforward within coding sequence, but is more difficult when all variants...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245002/ https://www.ncbi.nlm.nih.gov/pubmed/22064851 http://dx.doi.org/10.1093/nar/gkr917 |
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author | Ward, Lucas D. Kellis, Manolis |
author_facet | Ward, Lucas D. Kellis, Manolis |
author_sort | Ward, Lucas D. |
collection | PubMed |
description | The resolution of genome-wide association studies (GWAS) is limited by the linkage disequilibrium (LD) structure of the population being studied. Selecting the most likely causal variants within an LD block is relatively straightforward within coding sequence, but is more difficult when all variants are intergenic. Predicting functional non-coding sequence has been recently facilitated by the availability of conservation and epigenomic information. We present HaploReg, a tool for exploring annotations of the non-coding genome among the results of published GWAS or novel sets of variants. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with their predicted chromatin state in nine cell types, conservation across mammals and their effect on regulatory motifs. Sets of SNPs, such as those resulting from GWAS, are analyzed for an enrichment of cell type-specific enhancers. HaploReg will be useful to researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation. The HaploReg database is available at http://compbio.mit.edu/HaploReg. |
format | Online Article Text |
id | pubmed-3245002 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-32450022012-01-10 HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants Ward, Lucas D. Kellis, Manolis Nucleic Acids Res Articles The resolution of genome-wide association studies (GWAS) is limited by the linkage disequilibrium (LD) structure of the population being studied. Selecting the most likely causal variants within an LD block is relatively straightforward within coding sequence, but is more difficult when all variants are intergenic. Predicting functional non-coding sequence has been recently facilitated by the availability of conservation and epigenomic information. We present HaploReg, a tool for exploring annotations of the non-coding genome among the results of published GWAS or novel sets of variants. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with their predicted chromatin state in nine cell types, conservation across mammals and their effect on regulatory motifs. Sets of SNPs, such as those resulting from GWAS, are analyzed for an enrichment of cell type-specific enhancers. HaploReg will be useful to researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation. The HaploReg database is available at http://compbio.mit.edu/HaploReg. Oxford University Press 2012-01 2011-11-07 /pmc/articles/PMC3245002/ /pubmed/22064851 http://dx.doi.org/10.1093/nar/gkr917 Text en © The Author(s) 2011. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Ward, Lucas D. Kellis, Manolis HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title | HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title_full | HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title_fullStr | HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title_full_unstemmed | HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title_short | HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
title_sort | haploreg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245002/ https://www.ncbi.nlm.nih.gov/pubmed/22064851 http://dx.doi.org/10.1093/nar/gkr917 |
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