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SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies

We have developed a set of web-based SNP selection tools (freely available at http://www.niehs.nih.gov/snpinfo) where investigators can specify genes or linkage regions and select SNPs based on GWAS results, linkage disequilibrium (LD), and predicted functional characteristics of both coding and non...

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Detalles Bibliográficos
Autores principales: Xu, Zongli, Taylor, Jack A.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703930/
https://www.ncbi.nlm.nih.gov/pubmed/19417063
http://dx.doi.org/10.1093/nar/gkp290
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author Xu, Zongli
Taylor, Jack A.
author_facet Xu, Zongli
Taylor, Jack A.
author_sort Xu, Zongli
collection PubMed
description We have developed a set of web-based SNP selection tools (freely available at http://www.niehs.nih.gov/snpinfo) where investigators can specify genes or linkage regions and select SNPs based on GWAS results, linkage disequilibrium (LD), and predicted functional characteristics of both coding and non-coding SNPs. The algorithm uses GWAS SNP P-value data and finds all SNPs in high LD with GWAS SNPs, so that selection is from a much larger set of SNPs than the GWAS itself. The program can also identify and choose tag SNPs for SNPs not in high LD with any GWAS SNP. We incorporate functional predictions of protein structure, gene regulation, splicing and miRNA binding, and consider whether the alternative alleles of a SNP are likely to have differential effects on function. Users can assign weights for different functional categories of SNPs to further tailor SNP selection. The program accounts for LD structure of different populations so that a GWAS study from one ethnic group can be used to choose SNPs for one or more other ethnic groups. Finally, we provide an example using prostate cancer and demonstrate that this algorithm can select a small panel of SNPs that include many of the recently validated prostate cancer SNPs.
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spelling pubmed-27039302009-07-01 SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies Xu, Zongli Taylor, Jack A. Nucleic Acids Res Articles We have developed a set of web-based SNP selection tools (freely available at http://www.niehs.nih.gov/snpinfo) where investigators can specify genes or linkage regions and select SNPs based on GWAS results, linkage disequilibrium (LD), and predicted functional characteristics of both coding and non-coding SNPs. The algorithm uses GWAS SNP P-value data and finds all SNPs in high LD with GWAS SNPs, so that selection is from a much larger set of SNPs than the GWAS itself. The program can also identify and choose tag SNPs for SNPs not in high LD with any GWAS SNP. We incorporate functional predictions of protein structure, gene regulation, splicing and miRNA binding, and consider whether the alternative alleles of a SNP are likely to have differential effects on function. Users can assign weights for different functional categories of SNPs to further tailor SNP selection. The program accounts for LD structure of different populations so that a GWAS study from one ethnic group can be used to choose SNPs for one or more other ethnic groups. Finally, we provide an example using prostate cancer and demonstrate that this algorithm can select a small panel of SNPs that include many of the recently validated prostate cancer SNPs. Oxford University Press 2009-07-01 2009-05-05 /pmc/articles/PMC2703930/ /pubmed/19417063 http://dx.doi.org/10.1093/nar/gkp290 Text en Published by Oxford University Press 2009 http://creativecommons.org/licenses/by-nc/2.0/uk/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
Xu, Zongli
Taylor, Jack A.
SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title_full SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title_fullStr SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title_full_unstemmed SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title_short SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies
title_sort snpinfo: integrating gwas and candidate gene information into functional snp selection for genetic association studies
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703930/
https://www.ncbi.nlm.nih.gov/pubmed/19417063
http://dx.doi.org/10.1093/nar/gkp290
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