Semantically enabling a genome-wide association study database

Table 2 Output from running the human-mouse phenotype comparison pipeline

GWAS Central	EuroPhenome	MGD
Plasma	Decreased body weight	Short mandible
Protein C	Decreased circulating cholesterol level	Abnormal myocardial trabeculae morphology
Triglycerides	Decreased circulating HDL cholesterol level	Abnormal myocardium layer morphology
		Malocclusion
		Broad head
		Short snout
		Decreased body size
		Decreased litter size
		Postnatal lethality
		Micrognathia
		Decreased fetal size
		Small parietal bone
		Short nasal bone
		Abnormal palatine bone morphology
		Hypercalcemia
		Abnormal heart morphology
		Double outlet right ventricle
		Dilated heart left ventricle
		Dilated heart right ventricle
		Aorta coarctation
		Abnormal fourth branchial arch morphology
		Decreased birth body size
		Atrial septal defect
		Muscular ventricular septal defect
		Increased heart right ventricle size
		Increased heart left ventricle size
		Abnormal double-strand DNA break repair
		Complete postnatal lethality

The pipeline was used to search for annotations relating to the human BAZ1B gene and its mouse ortholog. The human phenotype annotations (GWAS Central) are made using MeSH and the mouse phenotype annotations (EuroPhenome and MGD) are made using MPO. A GWAS Central p-value threshold of “7” (10e-7) and a EuroPhenome statistical significance level of “0.00001” were used. All MGD annotations associated to the mouse Baz1b gene were returned.

ISSN: 2041-1480