2013
DOI: 10.1038/ejhg.2013.96
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Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

Abstract: 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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Cited by 214 publications
(185 citation statements)
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“…Protein expression of the candidate genes was investigated using the Human Proteome Map (28) and the Proteomics DB (29). Genome-wide association was verified using the NCBI Phenome-Genome Integrator (PheGenI) (30) and the Genome-Wide Association Studies Catalogue, GWAS (31). Clinical variations were verified using the ClinVar database (32).…”
mentioning
confidence: 99%
“…Protein expression of the candidate genes was investigated using the Human Proteome Map (28) and the Proteomics DB (29). Genome-wide association was verified using the NCBI Phenome-Genome Integrator (PheGenI) (30) and the Genome-Wide Association Studies Catalogue, GWAS (31). Clinical variations were verified using the ClinVar database (32).…”
mentioning
confidence: 99%
“…The following genomewide association tools were used: the Genetic Association Database, GAD [28], the National Center for Biotechnology Information (NCBI) Phenotype-Genotype Integrator, PheGenI [29], the Expression Quantitative Trait (eQTL) GtEx browser [30], the Database of Genomic Variants, DGV [31], Clinical Variations and the ClinVar [32].…”
Section: Methodsmentioning
confidence: 99%
“…48 Genome-wide association was verified using the NCBI Phenome-Genome Integrator, PheGenI, 49 and the Genome-Wide Association Studies Catalogue.…”
Section: Other Bioinformatics Analysesmentioning
confidence: 99%