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基因链接:一个促进复杂性状基因研究的数据库。

GeneLink: a database to facilitate genetic studies of complex traits.

作者信息

Gillanders Elizabeth M, Masiello Anthony, Gildea Derek, Umayam Lowell, Duggal Priya, Jones Mary Pat, Klein Alison P, Freas-Lutz Diana, Ibay Grace, Trout Ken, Wolfsberg Tyra G, Trent Jeffrey M, Bailey-Wilson Joan E, Baxevanis Andreas D

机构信息

Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-8000, USA.

出版信息

BMC Genomics. 2004 Oct 18;5:81. doi: 10.1186/1471-2164-5-81.

Abstract

BACKGROUND

In contrast to gene-mapping studies of simple Mendelian disorders, genetic analyses of complex traits are far more challenging, and high quality data management systems are often critical to the success of these projects. To minimize the difficulties inherent in complex trait studies, we have developed GeneLink, a Web-accessible, password-protected Sybase database.

RESULTS

GeneLink is a powerful tool for complex trait mapping, enabling genotypic data to be easily merged with pedigree and extensive phenotypic data. Specifically designed to facilitate large-scale (multi-center) genetic linkage or association studies, GeneLink securely and efficiently handles large amounts of data and provides additional features to facilitate data analysis by existing software packages and quality control. These include the ability to download chromosome-specific data files containing marker data in map order in various formats appropriate for downstream analyses (e.g., GAS and LINKAGE). Furthermore, an unlimited number of phenotypes (either qualitative or quantitative) can be stored and analyzed. Finally, GeneLink generates several quality assurance reports, including genotyping success rates of specified DNA samples or success and heterozygosity rates for specified markers.

CONCLUSIONS

GeneLink has already proven an invaluable tool for complex trait mapping studies and is discussed primarily in the context of our large, multi-center study of hereditary prostate cancer (HPC). GeneLink is freely available at http://research.nhgri.nih.gov/genelink.

摘要

背景

与简单孟德尔疾病的基因定位研究不同,复杂性状的遗传分析面临更大挑战,高质量的数据管理系统对于这些项目的成功往往至关重要。为了尽量减少复杂性状研究中固有的困难,我们开发了GeneLink,这是一个可通过网络访问、有密码保护的Sybase数据库。

结果

GeneLink是复杂性状定位的强大工具,能使基因型数据轻松与系谱及大量表型数据合并。专门设计用于促进大规模(多中心)遗传连锁或关联研究,GeneLink能安全高效地处理大量数据,并提供额外功能以方便现有软件包进行数据分析和质量控制。这些功能包括能够下载按图谱顺序包含标记数据的特定染色体数据文件,这些文件有适合下游分析的各种格式(如GAS和LINKAGE)。此外,可以存储和分析无限数量的表型(定性或定量)。最后,GeneLink生成几份质量保证报告,包括特定DNA样本的基因分型成功率或特定标记的成功率和杂合率。

结论

GeneLink已被证明是复杂性状定位研究的宝贵工具,本文主要在我们对遗传性前列腺癌(HPC)的大型多中心研究背景下进行讨论。可通过http://research.nhgri.nih.gov/genelink免费获取GeneLink。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fbe/526767/f9ad75e74014/1471-2164-5-81-1.jpg

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