首页> 美国卫生研究院文献>Bioinformatics >Path: a tool to facilitate pathway-based genetic association analysis
【2h】

Path: a tool to facilitate pathway-based genetic association analysis

机译:路径:一种促进基于路径的遗传关联分析的工具

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

>Summary: Traditional methods of genetic study design and analysis work well under the scenario that a handful of single nucleotide polymorphisms (SNPs) independently contribute to the risk of disease. For complex diseases, susceptibility may be determined not by a single SNP, but rather a complex interplay between SNPs. For large studies involving hundreds of thousands of SNPs, a brute force search of all possible combinations of SNPs associated with disease is not only inefficient, but also results in a multiple testing paradigm, whereby larger and larger sample sizes are needed to maintain statistical power. Pathway-based methods are an example of one of the many approaches in identifying a subset of SNPs to test for interaction. To help determine which SNP–SNP interactions to test, we developed Path, a software application designed to help researchers interface their data with biological information from several bioinformatics resources. To this end, our application brings together currently available information from nine online bioinformatics resources including the National Center for Biotechnology Information (NCBI), Online Mendelian Inheritance in Man (OMIM), Kyoto Encyclopedia of Genes and Genomes (KEGG), UCSC Genome Browser, Seattle SNPs, PharmGKB, Genetic Association Database, the Single Nucleotide Polymorphism database (dbSNP) and the Innate Immune Database (IIDB).>Availability: The software, example datasets and tutorials are freely available from .>Contact:
机译:>摘要:在少数单核苷酸多态性(SNP)独立地导致疾病风险的情况下,遗传研究设计和分析的传统方法效果很好。对于复杂的疾病,药敏性可能不是由单个SNP决定的,而是由SNP之间复杂的相互作用决定的。对于涉及成千上万个SNP的大型研究,用强力搜索与疾病相关的SNP的所有可能组合不仅效率低下,而且还会导致多重测试范式,从而需要越来越大的样本量来保持统计功效。基于路径的方法是识别SNP子集以测试相互作用的众多方法之一。为了帮助确定要测试的SNP-SNP相互作用,我们开发了Path软件,该软件应用程序旨在帮助研究人员将其数据与来自多种生物信息学资源的生物学信息相连接。为此,我们的应用程序汇集了来自九个在线生物信息学资源的当前可用信息,这些资源包括国家生物技术信息中心(NCBI),在线孟德尔人类遗传(OMIM),《京都基因与基因组百科全书》(KEGG),UCSC基因组浏览器,西雅图SNP,PharmGKB,遗传协会数据库,单核苷酸多态性数据库(dbSNP)和先天免疫数据库(IIDB)。>可用性:该软件,示例数据集和教程可从以下网站免费获得。>联系人:

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号