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

Personal medicine—the new banking crisis

(2012) Christopher Thomas Scott et al.   NATURE BIOTECHNOLOGY

Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies

(2011) Joshua C. Denny et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The epidemiology of thyroid disease

(2011) M. P. J. Vanderpump   BRITISH MEDICAL BULLETIN

The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery

(2011) S.A. Pendergrass et al.   GENETIC EPIDEMIOLOGY

Novel Variant of Thyroglobulin Promoter Triggers Thyroid Autoimmunity through an Epigenetic Interferon α-modulated Mechanism

(2011) Mihaela Stefan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels

(2011) Suzette J. Bielinski et al.   MAYO CLINIC PROCEEDINGS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Identification of Genomic Predictors of Atrioventricular Conduction

(2010) Joshua C. Denny et al.   CIRCULATION

Integrating reasoning and clinical archetypes using OWL ontologies and SWRL rules

(2010) Leonardo Lezcano et al.   JOURNAL OF BIOMEDICAL INFORMATICS

The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data

(2010) C. G. Chute et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Integration of prostate cancer clinical data using an ontology

(2009) Hua Min et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Polyunsaturated Fatty Acids Modulate the Effect of TCF7L2 Gene Variants on Postprandial Lipemia

(2009) Daruneewan Warodomwichit et al.   JOURNAL OF NUTRITION

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

(2009) Julius Gudmundsson et al.   NATURE GENETICS

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

(2009) Jennifer K. Lowe et al.   PLoS Genetics

Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function

(2008) Lisette Arnaud-Lopez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study

(2008) Ilir Agalliu et al.   PROSTATE