, Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease, 2011.

W. G. Feero, A. E. Guttmacher, and F. S. Collins, Genomic medicine-an updated primer, N Engl J Med, vol.362, 2001.
DOI : 10.1056/nejmra0907175

R. J. Klein, C. Zeiss, E. Y. Chew, J. Tsai, and R. S. Sackler, Complement Factor H Polymorphism in Age-Related Macular Degeneration, Science, vol.308, pp.385-389, 2005.

L. A. Hindorff, P. Sethupathy, H. A. Junkins, E. M. Ramos, and J. P. Mehta, 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.

K. A. Frazer, D. G. Ballinger, D. R. Cox, D. A. Hinds, and L. L. Stuve, A second generation human haplotype map of over 3.1 million SNPs, Nature, vol.449, pp.851-861, 2007.

L. A. Hindorff, J. Macarthur, H. A. Junkins, and P. N. Hall, Catalog of Published Genome-Wide Association Studies, 2013.

J. C. Denny, M. D. Ritchie, M. A. Basford, J. M. Pulley, and L. Bastarache, PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations, Bioinformatics, vol.26, pp.1205-1210, 2010.

J. C. Denny, D. C. Crawford, M. D. Ritchie, S. J. Bielinski, and M. A. Basford, 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.

D. M. Roden, J. M. Pulley, M. A. Basford, G. R. Bernard, and E. W. Clayton, Development of a large-scale de-identified DNA biobank to enable personalized medicine, ClinPharmacolTher, vol.84, pp.362-369, 2008.

K. P. Liao, F. Kurreeman, G. Li, G. Duclos, and S. Murphy, Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records, Arthritis Rheum, 2012.

S. J. Hebbring, S. J. Schrodi, Z. Ye, Z. Zhou, and D. Page, 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

A. N. Kho, J. A. Pacheco, P. L. Peissig, L. Rasmussen, and K. M. Newton, Electronic medical records for genetic research: results of the eMERGE consortium, SciTransl Med, vol.3, pp.79-80, 2011.

S. A. Pendergrass, K. Brown-gentry, S. M. Dudek, E. S. Torstenson, and J. L. Ambite, 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.

S. A. Pendergrass, K. Brown-gentry, S. Dudek, A. Frase, and E. S. Torstenson, Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network, PLoS Genet, vol.9, 2013.

M. D. Ritchie, J. C. Denny, R. L. Zuvich, D. C. Crawford, and J. S. Schildcrout, Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk, 2013.

N. H. Shah and J. D. Tenenbaum, The coming age of data-driven medicine: translational bioinformatics' next frontier, J Am Med Inform Assoc, vol.19, pp.2-4, 2012.

A. Halevy, P. Norvig, and F. Pereira, The Unreasonable Effectiveness of Data, IEEE Intelligent Systems, vol.24, pp.8-12, 2009.

H. J. Lowe, T. A. Ferris, P. M. Hernandez, and S. C. Weber, STRIDE-An integrated standards-based translational research informatics platform, AMIA AnnuSympProc, pp.391-395, 2009.

S. N. Murphy, G. Weber, M. Mendis, V. Gainer, and H. C. Chueh, 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.

S. Szalma, V. Koka, T. Khasanova, and E. D. Perakslis, 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

I. S. Kohane, J. M. Drazen, and E. W. Campion, A glimpse of the next 100 years in medicine, N Engl J Med, vol.367, pp.2538-2539, 2012.

R. B. Altman, 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

J. C. Denny, 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

F. S. Roque, P. B. Jensen, H. Schmock, M. Dalgaard, and M. Andreatta, 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

R. Bellazzi, M. Masseroli, S. Murphy, A. Shabo, and P. Romano, 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

L. Chouchana, C. Narjoz, and M. Loriot, 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

E. Schaeffeler, C. Fischer, D. Brockmeier, D. Wernet, and K. Moerike, 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.

L. Chouchana, C. Narjoz, P. Beaune, M. A. Loriot, and X. Roblin, Review article: the benefits of pharmacogenetics for improving thiopurine therapy in inflammatory bowel disease, Alimentary pharmacology & therapeutics, vol.35, pp.15-36, 2012.

M. V. Relling, E. E. Gardner, W. J. Sandborn, K. Schmiegelow, and C. H. Pui, 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

G. Stocco, S. Martelossi, A. Barabino, M. Fontana, and P. Lionetti, TPMT genotype and the use of thiopurines in paediatric inflammatory bowel disease, Dig Liver Dis, vol.37, pp.940-945, 2005.

A. G. Fraser, T. R. Orchard, and D. P. Jewell, The efficacy of azathioprine for the treatment of inflammatory bowel disease: a 30 year review, Gut, vol.50, pp.485-489, 2002.

M. C. Dubinsky, H. Yang, P. V. Hassard, E. G. Seidman, and L. Y. Kam, 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

L. Lennard, J. A. Van-loon, J. S. Lilleyman, and R. M. Weinshilboum, Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations, ClinPharmacolTher, vol.41, pp.18-25, 1987.

R. M. Weinshilboum and S. L. Sladek, Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity, Am J Hum Genet, vol.32, pp.651-662, 1980.

M. L. Appell, J. Berg, J. Duley, W. E. Evans, and M. A. Kennedy, Nomenclature for alleles of the thiopurine methyltransferase gene, Pharmacogenet Genomics, vol.23, pp.242-248, 2013.

A. Ansari, C. Hassan, J. Duley, A. Marinaki, and E. Shobowale-bakre, Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease, Aliment PharmacolTher, vol.16, pp.1743-1750, 2002.

L. Chouchana, D. Roche, R. Jian, P. Beaune, and M. A. Loriot, Poor response to thiopurine in inflammatory bowel disease: how to overcome therapeutic resistance?, Clin Chem, vol.59, pp.1023-1029, 2013.

E. Zapletal, N. Rodon, N. Grabar, and P. Degoulet, 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.

O. Bodenreider, S. J. Nelson, W. T. Hole, and H. F. Chang, Beyond synonymy: exploiting the UMLS semantics in mapping vocabularies, Proc AMIA Symp, pp.815-819, 1998.

J. Denny, ICD9 to PheWAS: Code translation map, 2013.

D. Anglicheau, S. Sanquer, M. A. Loriot, P. Beaune, and E. Thervet, 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.

Y. Benjamini and Y. Hochberg, 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.

J. Pathak, R. C. Kiefer, S. J. Bielinski, and C. G. Chute, Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank, J Biomed Semantics, vol.3, p.10, 2012.

G. Bergamaschi, D. Sabatino, A. Albertini, R. Ardizzone, S. Biancheri et al., Prevalence and pathogenesis of anemia in inflammatory bowel disease.Influence of anti-tumor necrosis factor-alpha treatment, Haematologica, vol.95, pp.199-205, 2010.

W. E. Evans, M. Horner, Y. Q. Chu, D. Kalwinsky, and W. M. Roberts, 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.

C. W. Dunnett, Multiple Comparison Procedure for Comparing Several Treatments with a Control, Journal of the American Statistical Association, vol.50, pp.1096-1121, 1955.

A. Reiner, D. Yekutieli, and Y. Benjamini, Identifying differentially expressed genes using false discovery rate controlling procedures, Bioinformatics, vol.19, pp.368-375, 2003.

B. Jharap, N. De-boer, P. Stokkers, D. W. Hommes, and B. Oldenburg, Intrauterine exposure and pharmacology of conventional thiopurine therapy in pregnant patients with inflammatory bowel disease, Gut, 2013.

M. M. Hsieh, J. E. Everhart, D. D. Byrd-holt, J. F. Tisdale, and G. P. Rodgers, 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.