, Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease, 2011.
Genomic medicine-an updated primer, N Engl J Med, vol.362, 2001. ,
DOI : 10.1056/nejmra0907175
Complement Factor H Polymorphism in Age-Related Macular Degeneration, Science, vol.308, pp.385-389, 2005. ,
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits, Proceedings of the National Academy of Sciences of the United States of America, vol.106, pp.9362-9367, 2009. ,
A second generation human haplotype map of over 3.1 million SNPs, Nature, vol.449, pp.851-861, 2007. ,
, Catalog of Published Genome-Wide Association Studies, 2013.
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations, Bioinformatics, vol.26, pp.1205-1210, 2010. ,
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome-and phenome-wide studies, American journal of human genetics, vol.89, pp.529-542, 2011. ,
DOI : 10.1016/j.ajhg.2011.09.008
URL : https://doi.org/10.1016/j.ajhg.2011.09.008
, Available, WHO (2010) WHO | International Classification of Diseases (ICD), 2013.
Development of a large-scale de-identified DNA biobank to enable personalized medicine, ClinPharmacolTher, vol.84, pp.362-369, 2008. ,
Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records, Arthritis Rheum, 2012. ,
A PheWAS approach in studying HLA-DRB1*1501, Genes Immun, 2013. ,
DOI : 10.1038/gene.2013.2
URL : https://www.nature.com/articles/gene20132.pdf
Electronic medical records for genetic research: results of the eMERGE consortium, SciTransl Med, vol.3, pp.79-80, 2011. ,
The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery, Genetic epidemiology, vol.35, pp.410-422, 2011. ,
Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network, PLoS Genet, vol.9, 2013. ,
Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk, 2013. ,
The coming age of data-driven medicine: translational bioinformatics' next frontier, J Am Med Inform Assoc, vol.19, pp.2-4, 2012. ,
The Unreasonable Effectiveness of Data, IEEE Intelligent Systems, vol.24, pp.8-12, 2009. ,
STRIDE-An integrated standards-based translational research informatics platform, AMIA AnnuSympProc, pp.391-395, 2009. ,
Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2), Journal of the American Medical Informatics Association: JAMIA, vol.17, 2010. ,
Effective knowledge management in translational medicine, J Transl Med, vol.8, p.68, 2010. ,
DOI : 10.1186/1479-5876-8-68
URL : https://translational-medicine.biomedcentral.com/track/pdf/10.1186/1479-5876-8-68
A glimpse of the next 100 years in medicine, N Engl J Med, vol.367, pp.2538-2539, 2012. ,
Translational Bioinformatics: Linking the Molecular World to the Clinical World, Clinical Pharmacology & Therapeutics, vol.91, pp.994-1000, 2012. ,
DOI : 10.1038/clpt.2012.49
URL : http://europepmc.org/articles/pmc4154360?pdf=render
Mining Electronic Health Records in the Genomics Era, PLoSComputBiol, vol.13, p.1002823, 2012. ,
DOI : 10.1371/journal.pcbi.1002823
URL : https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002823&type=printable
Using Electronic Patient Records to Discover Disease Correlations and Stratify Patient Cohorts, PLoSComputBiol, vol.7, p.1002141, 2011. ,
DOI : 10.1371/journal.pcbi.1002141
URL : https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002141&type=printable
Clinical Bioinformatics: challenges and opportunities, BMC Bioinformatics, vol.13, p.1, 2012. ,
DOI : 10.1186/1471-2105-13-s14-s1
URL : https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/1471-2105-13-S14-S1
TPMT status determination: the simplest is the most effective?, J Crohns Colitis, vol.6, p.807, 2012. ,
DOI : 10.1016/j.crohns.2012.04.003
URL : https://academic.oup.com/ecco-jcc/article-pdf/6/7/807/956281/6-7-807.pdf
Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants, Pharmacogenetics, vol.14, pp.407-417, 2004. ,
Review article: the benefits of pharmacogenetics for improving thiopurine therapy in inflammatory bowel disease, Alimentary pharmacology & therapeutics, vol.35, pp.15-36, 2012. ,
Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing, Clinical pharmacology and therapeutics, vol.89, pp.387-391, 2011. ,
DOI : 10.1038/clpt.2010.320
URL : https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1038/clpt.2010.320
TPMT genotype and the use of thiopurines in paediatric inflammatory bowel disease, Dig Liver Dis, vol.37, pp.940-945, 2005. ,
The efficacy of azathioprine for the treatment of inflammatory bowel disease: a 30 year review, Gut, vol.50, pp.485-489, 2002. ,
6-MP metabolite profiles provide a biochemical explanation for 6-MP resistance in patients with inflammatory bowel disease, Gastroenterology, vol.122, pp.904-915, 2002. ,
DOI : 10.1053/gast.2002.32420
Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations, ClinPharmacolTher, vol.41, pp.18-25, 1987. ,
Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity, Am J Hum Genet, vol.32, pp.651-662, 1980. ,
Nomenclature for alleles of the thiopurine methyltransferase gene, Pharmacogenet Genomics, vol.23, pp.242-248, 2013. ,
Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease, Aliment PharmacolTher, vol.16, pp.1743-1750, 2002. ,
Poor response to thiopurine in inflammatory bowel disease: how to overcome therapeutic resistance?, Clin Chem, vol.59, pp.1023-1029, 2013. ,
Methodology of integration of a clinical data warehouse with a clinical information system: the HEGP case, Studies in health technology and informatics, vol.160, pp.193-197, 2010. ,
, Ministry of Health of New Zealand. Available, 2000.
Beyond synonymy: exploiting the UMLS semantics in mapping vocabularies, Proc AMIA Symp, pp.815-819, 1998. ,
ICD9 to PheWAS: Code translation map, 2013. ,
Thiopurine methyltransferase activity: new conditions for reversed-phase high-performance liquid chromatographic assay without extraction and genotypic-phenotypic correlation, J Chromatogr B AnalytTechnol Biomed Life Sci, vol.773, pp.119-127, 2002. ,
Controlling the false discovery rate: a practical and powerful approach to multiple testing, Journal of the Royal Statistical Society Series B (Methodological, pp.289-300, 1995. ,
Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank, J Biomed Semantics, vol.3, p.10, 2012. ,
Prevalence and pathogenesis of anemia in inflammatory bowel disease.Influence of anti-tumor necrosis factor-alpha treatment, Haematologica, vol.95, pp.199-205, 2010. ,
Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia, J Pediatr, vol.119, pp.985-989, 1991. ,
Multiple Comparison Procedure for Comparing Several Treatments with a Control, Journal of the American Statistical Association, vol.50, pp.1096-1121, 1955. ,
Identifying differentially expressed genes using false discovery rate controlling procedures, Bioinformatics, vol.19, pp.368-375, 2003. ,
Intrauterine exposure and pharmacology of conventional thiopurine therapy in pregnant patients with inflammatory bowel disease, Gut, 2013. ,
, Prevalence of Neutropenia in the U.S. Population: Age, Sex, Smoking Status, and Ethnic Differences, vol.146, pp.486-492, 2007.
, WHO|Haemoglobin concentrations for the diagnosis of anaemia and assessment of severity, WHO, 2011.
, WHO|Definition and diagnosis of diabetes mellitus and intermediate hyperglycaemia, 2006.