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Haploview:单核苷酸多态性(SNP)基因型数据的可视化与分析

Haploview: Visualization and analysis of SNP genotype data.

作者信息

Barrett Jeffrey C

出版信息

Cold Spring Harb Protoc. 2009 Oct;2009(10):pdb.ip71. doi: 10.1101/pdb.ip71.

Abstract

Association studies involve accessing, parsing, generating, and analyzing large volumes of data, often carried out in many steps over many months. Large-scale surveys of genetic variation, such as the International HapMap Project, and rapidly increasing volumes of single-nucleotide polymorphism (SNP) genotyping data have created exciting opportunities for association studies. However, they have further exacerbated the difficulty of curating and analyzing such data. Haploview is a program developed in Mark Daly's lab at the Broad Institute of MIT and Harvard, which is designed to bundle many everyday analysis tasks into one easy-to-use package. Haploview has several features that are useful throughout different phases of association studies. Several of these features are illustrated in this article by following a hypothetical association study from design to execution. Haploview is used to (1) analyze HapMap data and choose tag-SNPs, (2) evaluate the quality of disease genotype data, (3) test for association, and (4) evaluate a region for follow-up of a positive association.

摘要

关联研究涉及访问、解析、生成和分析大量数据,通常要在数月内分多个步骤进行。对遗传变异的大规模调查,如国际人类基因组单体型图计划(International HapMap Project),以及单核苷酸多态性(SNP)基因分型数据量的迅速增加,为关联研究创造了令人兴奋的机会。然而,这进一步加剧了整理和分析此类数据的难度。Haploview是麻省理工学院和哈佛大学布罗德研究所马克·戴利实验室开发的一个程序,旨在将许多日常分析任务整合到一个易于使用的软件包中。Haploview具有几个在关联研究的不同阶段都很有用的功能。本文通过跟踪一个假设的从设计到执行的关联研究,阐述了其中的几个功能。Haploview用于(1)分析人类基因组单体型图数据并选择标签SNP,(2)评估疾病基因型数据的质量,(3)进行关联测试,以及(4)评估一个区域以对阳性关联进行后续研究。

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