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单核苷酸多态性(SNP)功能门户:一个用于探索SNP等位基因功能含义的网络数据库。

SNP Function Portal: a web database for exploring the function implication of SNP alleles.

作者信息

Wang Pinglang, Dai Manhong, Xuan Weijian, McEachin Richard C, Jackson Anne U, Scott Laura J, Athey Brian, Watson Stanley J, Meng Fan

机构信息

Molecular and Behavioral Neuroscience Institute and Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA.

出版信息

Bioinformatics. 2006 Jul 15;22(14):e523-9. doi: 10.1093/bioinformatics/btl241.

Abstract

MOTIVATION

Finding the potential functional significance of SNPs is a major bottleneck in understanding genome-wide SNP scanning results, as the related functional data are distributed across many different databases. The SNP Function Portal is designed to be a clearing house for all public domain SNP functional annotation data, as well as in-house functional annotations derived from different data sources. It currently contains SNP functional annotations in six major categories including genomic elements, transcription regulation, protein function, pathway, disease and population genetics. Besides extensive SNP functional annotations, the SNP Function Portal includes a powerful search engine that accepts different types of genetic markers as input and identifies all genetically related SNPs based on the HapMap Phase II data as well as the relationship of different markers to known genes. As a result, our system allows users to identify the potential biological impact of genetic markers and complex relationships among genetic markers and genes, and it greatly facilitates knowledge discovery in genome-wide SNP scanning experiments.

AVAILABILITY

http://brainarray.mbni.med.umich.edu/Brainarray/Database/SearchSNP/snpfunc.aspx.

摘要

动机

由于相关功能数据分布在许多不同的数据库中,因此确定单核苷酸多态性(SNP)的潜在功能意义是理解全基因组SNP扫描结果的主要瓶颈。SNP功能门户旨在成为所有公共领域SNP功能注释数据以及源自不同数据源的内部功能注释的信息中心。它目前包含六大类SNP功能注释,包括基因组元件、转录调控、蛋白质功能、信号通路、疾病和群体遗传学。除了广泛的SNP功能注释外,SNP功能门户还包括一个强大的搜索引擎,该引擎接受不同类型的遗传标记作为输入,并根据HapMap二期数据以及不同标记与已知基因的关系识别所有遗传相关的SNP。因此,我们的系统允许用户识别遗传标记的潜在生物学影响以及遗传标记与基因之间的复杂关系,并且极大地促进了全基因组SNP扫描实验中的知识发现。

可用性

http://brainarray.mbni.med.umich.edu/Brainarray/Database/SearchSNP/snpfunc.aspx。

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