Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank

Dolgin E(2011)Massive biobank yields first results with more to come Nat Med 17 1326-1326

Scott CT(2012)Personal medicine-the new banking crisis Nat Biotechnol 30 141-147

Caulfield T(2011)The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies BMC Med Genet 4 13-574

Borgelt E(2010)Leveraging Informatics for Genetic Studies: Use of the Electronic Medical Record to Enable a Genome-Wide Association Study of Peripheral Arterial Disease JAMIA 17 568-2021

Illes J(2010)Identification of Genomic Predictors of Atrioventricular Conduction / Clinical Perspective Circulation 122 2016-1210

McCarty C(2010)PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations Bioinformatics 26 1205-422

Chisholm R(2011)The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery Genet Epidemiol 35 410-22

Chute C(2009)Linked Data - The Story So Far Int J Semantic Web Inf Syst 5 1-9

Kullo I(2012)Using Semantic Web Technologies for Cohort Identification from Electronic Health Records to Conduct Genomic Studies AMIA Summits Transl Sci Proc 2012 10-614

Fan J(2011)Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels Mayo Clin Proc 86 606-2569

Dolgin E(2011)Massive biobank yields first results with more to come Nat Med 17 1326-1326

Scott CT(2012)Personal medicine-the new banking crisis Nat Biotechnol 30 141-147

Caulfield T(2011)The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies BMC Med Genet 4 13-574

Borgelt E(2010)Leveraging Informatics for Genetic Studies: Use of the Electronic Medical Record to Enable a Genome-Wide Association Study of Peripheral Arterial Disease JAMIA 17 568-2021

Illes J(2010)Identification of Genomic Predictors of Atrioventricular Conduction / Clinical Perspective Circulation 122 2016-1210

McCarty C(2010)PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations Bioinformatics 26 1205-422

Chisholm R(2011)The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery Genet Epidemiol 35 410-22

Chute C(2009)Linked Data - The Story So Far Int J Semantic Web Inf Syst 5 1-9

Kullo I(2012)Using Semantic Web Technologies for Cohort Identification from Electronic Health Records to Conduct Genomic Studies AMIA Summits Transl Sci Proc 2012 10-614

Fan J(2011)Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels Mayo Clin Proc 86 606-2569