Phenotype-Genotype Integrator (PheGenI): synthesizing genome- wide association study (GWAS) data with existing genomic resources
Phenotype-Genotype Integrator (PheGenI): synthesizing genome- wide association study (GWAS) data with existing genomic resources
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DOI：
10.1038/ejhg.2013.96
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发表时间：
2014-01-01
影响因子：
5.2
通讯作者：
Hindorff, Lucia A.
中科院分区：
文献类型：
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作者：
Ramos, Erin M.;Hoffman, Douglas;Hindorff, Lucia A.
从全基因组关联研究（GWAS）和其他大规模研究中快速积累的数据在与现有数据库综合时最有用。为了抓住这个机会，我们开发了表型-基因型整合器（PheGenI），这是一个用户友好的Web界面，它将各种国家生物技术信息中心（NCBI）基因组数据库与国家人类基因组研究所GWAS目录中的关联数据整合在一起，并支持下载搜索结果。在这里，我们描述了这种资源的基本原理和发展。PheGenI整合了超过66 000个关联记录，以及NCBI提供的大量单核苷酸多态性（SNP）、基因和表达数量性状位点数据，能够更深入地调查和询问与多种性状相关的SNP，有助于研究遗传变异与人类疾病之间的关系。
Rapidly accumulating data from genome-wide association studies (GWASs) and other large-scale studies are most useful when synthesized with existing databases. To address this opportunity, we developed the Phenotype-Genotype Integrator (PheGenI), a user-friendly web interface that integrates various National Center for Biotechnology Information (NCBI) genomic databases with association data from the National Human Genome Research Institute GWAS Catalog and supports downloads of search results. Here, we describe the rationale for and development of this resource. Integrating over 66 000 association records with extensive single nucleotide polymorphism (SNP), gene, and expression quantitative trait loci data already available from the NCBI, PheGenI enables deeper investigation and interrogation of SNPs associated with a wide range of traits, facilitating the examination of the relationships between genetic variation and human diseases.