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SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management
BACKGROUND: Single nucleotide polymorphisms (SNPs) provide an important tool in pinpointing susceptibility genes for complex diseases and in unveiling human molecular evolution. Selection and retrieval of an optimal SNP set from publicly available databases have emerged as the foremost bottlenecks i...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274256/ https://www.ncbi.nlm.nih.gov/pubmed/15774022 http://dx.doi.org/10.1186/1471-2105-6-60 |
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author | Wang, Lin Liu, Simin Niu, Tianhua Xu, Xin |
author_facet | Wang, Lin Liu, Simin Niu, Tianhua Xu, Xin |
author_sort | Wang, Lin |
collection | PubMed |
description | BACKGROUND: Single nucleotide polymorphisms (SNPs) provide an important tool in pinpointing susceptibility genes for complex diseases and in unveiling human molecular evolution. Selection and retrieval of an optimal SNP set from publicly available databases have emerged as the foremost bottlenecks in designing large-scale linkage disequilibrium studies, particularly in case-control settings. RESULTS: We describe the architectural structure and implementations of a novel software program, SNPHunter, which allows for both ad hoc-mode and batch-mode SNP search, automatic SNP filtering, and retrieval of SNP data, including physical position, function class, flanking sequences at user-defined lengths, and heterozygosity from NCBI dbSNP. The SNP data extracted from dbSNP via SNPHunter can be exported and saved in plain text format for further down-stream analyses. As an illustration, we applied SNPHunter for selecting SNPs for 10 major candidate genes for type 2 diabetes, including CAPN10, FABP4, IL6, NOS3, PPARG, TNF, UCP2, CRP, ESR1, and AR. CONCLUSION: SNPHunter constitutes an efficient and user-friendly tool for SNP screening, selection, and acquisition. The executable and user's manual are available at . |
format | Text |
id | pubmed-1274256 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2005 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-12742562005-10-29 SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management Wang, Lin Liu, Simin Niu, Tianhua Xu, Xin BMC Bioinformatics Methodology Article BACKGROUND: Single nucleotide polymorphisms (SNPs) provide an important tool in pinpointing susceptibility genes for complex diseases and in unveiling human molecular evolution. Selection and retrieval of an optimal SNP set from publicly available databases have emerged as the foremost bottlenecks in designing large-scale linkage disequilibrium studies, particularly in case-control settings. RESULTS: We describe the architectural structure and implementations of a novel software program, SNPHunter, which allows for both ad hoc-mode and batch-mode SNP search, automatic SNP filtering, and retrieval of SNP data, including physical position, function class, flanking sequences at user-defined lengths, and heterozygosity from NCBI dbSNP. The SNP data extracted from dbSNP via SNPHunter can be exported and saved in plain text format for further down-stream analyses. As an illustration, we applied SNPHunter for selecting SNPs for 10 major candidate genes for type 2 diabetes, including CAPN10, FABP4, IL6, NOS3, PPARG, TNF, UCP2, CRP, ESR1, and AR. CONCLUSION: SNPHunter constitutes an efficient and user-friendly tool for SNP screening, selection, and acquisition. The executable and user's manual are available at . BioMed Central 2005-03-18 /pmc/articles/PMC1274256/ /pubmed/15774022 http://dx.doi.org/10.1186/1471-2105-6-60 Text en Copyright © 2005 Wang et al; licensee BioMed Central Ltd. |
spellingShingle | Methodology Article Wang, Lin Liu, Simin Niu, Tianhua Xu, Xin SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title | SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title_full | SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title_fullStr | SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title_full_unstemmed | SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title_short | SNPHunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
title_sort | snphunter: a bioinformatic software for single nucleotide polymorphism data acquisition and management |
topic | Methodology Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274256/ https://www.ncbi.nlm.nih.gov/pubmed/15774022 http://dx.doi.org/10.1186/1471-2105-6-60 |
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