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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...

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Autores principales: Wang, Lin, Liu, Simin, Niu, Tianhua, Xu, Xin
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
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 .
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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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