OGA: an ontological tool of human phenotypes with genetic associations

BMC Research Notes

Jeffrey Solka²  Vishwesh Mokashi¹  David L Hirschberg⁴  Jesus Enrique Herrera-Galeano³ 

[1] Genomics and Bioinformatics, Naval Medical Research Center-Frederick, United States Navy, 8400 Research Plaza, Fort Detrick, Frederick, MD, USA;Bioinformatics and Computational Biology, George Mason University, Manassas, VA, USA;Henry M. Jackson Foundation, Bethesda, MDUSA;Center for Infection and Immunity, Columbia University, 8400 Research Plaza, 722 West 168th Street, Room 1704, New York City, NY 10032, USA

关键词: Phenotype;    Genotype;    Gene;    Knowledge;    Structured;    Association;    Genetic;    Ontology;   

Others  :  1140592
DOI  :  10.1186/1756-0500-6-511

 received in 2013-09-11, accepted in 2013-11-28,  发布年份 2013

【 摘 要 】

Background

The availability of genetic data has increased dramatically in recent years. The greatest value of this data is its potential for personalized medicine. Many new associations are reported every day from Genome Wide Association Studies (GWAS). However, robust, reproducible associations are elusive for some complex diseases. Ontologies present a potential way to distinguish between spurious associations and those with a potential influence on the phenotype. Such an approach would be based on finding associations of the same genetic variant with closely related, but distinct, phenotypes. This approach can be accomplished with a phenotype ontology that also holds genetic association data.

Results

Here, we report a structured knowledge application to navigate and to facilitate the discovery of relationships between different phenotypes and their genetic associations.

Conclusions

OGA allows users to (1) find the intersecting set of genes for phenotypes of interest, (2) find empirical p values for such observations and (3) OGA outperforms similar applications in number of total concepts and genes mapped.

【 授权许可】

   
2013 Herrera-Galeano et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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