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Eur J Hum Genet. 2014 Jan;22(1):144-7. doi: 10.1038/ejhg.2013.96. Epub 2013 May 22.

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

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Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.


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.

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