Phenotype-Genotype Integrator (PheGenI): synthesizing genome- wide association study (GWAS) data with existing genomic resources

被引：147

作者：

Ramos, Erin M. ^{[1
]}

Hoffman, Douglas ^{[2
]}

Junkins, Heather A. ^{[1
]}

Maglott, Donna ^{[2
]}

Phan, Lon ^{[2
]}

Sherry, Stephen T. ^{[2
]}

Feolo, Mike ^{[2
]}

Hindorff, Lucia A. ^{[1
]}

机构：

[1] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA

[2] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20814 USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2014年 / 22卷 / 01期

基金：

美国国家卫生研究院;

关键词：

database; data integration; genome sequence; genome-wide association study; phenotype; single nucleotide polymorphism;

D O I：

10.1038/ejhg.2013.96

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：144 / 147

页数：4

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