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蛹基因组分析套件:用于大规模基因分型的功能性单核苷酸多态性查找

PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes.

作者信息

Conde Lucía, Vaquerizas Juan M, Dopazo Hernán, Arbiza Leonardo, Reumers Joke, Rousseau Frederic, Schymkowitz Joost, Dopazo Joaquín

机构信息

Department of Bioinformatics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46013, Spain.

出版信息

Nucleic Acids Res. 2006 Jul 1;34(Web Server issue):W621-5. doi: 10.1093/nar/gkl071.

Abstract

We have developed a web tool, PupaSuite, for the selection of single nucleotide polymorphisms (SNPs) with potential phenotypic effect, specifically oriented to help in the design of large-scale genotyping projects. PupaSuite uses a collection of data on SNPs from heterogeneous sources and a large number of pre-calculated predictions to offer a flexible and intuitive interface for selecting an optimal set of SNPs. It improves the functionality of PupaSNP and PupasView programs and implements new facilities such as the analysis of user's data to derive haplotypes with functional information. A new estimator of putative effect of polymorphisms has been included that uses evolutionary information. Also SNPeffect database predictions have been included. The PupaSuite web interface is accessible through http://pupasuite.bioinfo.cipf.es and through http://www.pupasnp.org.

摘要

我们开发了一个网络工具PupaSuite,用于选择具有潜在表型效应的单核苷酸多态性(SNP),特别旨在帮助设计大规模基因分型项目。PupaSuite使用来自异质来源的SNP数据集合以及大量预先计算的预测结果,提供一个灵活且直观的界面来选择一组最佳的SNP。它改进了PupaSNP和PupasView程序的功能,并实现了新的功能,如分析用户数据以推导具有功能信息的单倍型。已纳入一种使用进化信息的多态性推定效应新估计器。此外,还纳入了SNPeffect数据库预测结果。可通过http://pupasuite.bioinfo.cipf.es和http://www.pupasnp.org访问PupaSuite网络界面。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97ad/1538854/377beaeaeb92/gkl071f1.jpg

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