. Phenotyping, Targeting genotype's rich cousin for diagnosis, J Paediatr Child Health, vol.51, issue.4, pp.381-386

M. Bostock, V. Ogievetsky, and J. Heer, D³ data-driven documents, IEEE TVCG, vol.17, issue.12, pp.2301-2309, 2011.
DOI : 10.1109/tvcg.2011.185

M. Brehmer and T. Munzner, A Multi-Level Typology of Abstract Visualization Tasks, IEEE Transactions on Visualization and Computer Graphics, vol.19, issue.12, pp.2376-2385, 2013.
DOI : 10.1109/TVCG.2013.124

O. J. Buske, M. Girdea, S. Dumitriu, and A. E. Links, PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases, Human Mutation, vol.6, issue.19, pp.36-931, 2015.
DOI : 10.1002/humu.22851

S. Carpendale, M. Chen, D. Evanko, and H. Strobelt, Ontologies in Biological Data Visualization, IEEE Computer Graphics and Applications, vol.34, issue.2, pp.8-15, 2014.
DOI : 10.1109/MCG.2014.33

E. Cerami, J. Gao, U. Dogrusoz, and Y. Antipin, The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1., Cancer Discovery, vol.2, issue.5, pp.401-404, 2012.
DOI : 10.1158/2159-8290.CD-12-0095

M. Fiume, E. J. Smith, A. Brook, and M. Brudno, Savant Genome Browser 2: visualization and analysis for population-scale genomics, Nucleic Acids Research, vol.40, issue.W1, pp.615-621, 2012.
DOI : 10.1093/nar/gks427

B. Fu, N. F. Noy, and M. A. Storey, Eye tracking the user experience ??? An??evaluation of ontology visualization techniques, Semantic Web Journal, pp.1-19, 2015.
DOI : 10.3233/SW-140163

M. Girdea, S. Dumitriu, M. Fiume, and J. So, PhenoTips: Patient Phenotyping Software for Clinical and Research Use, Human Mutation, vol.111, issue.4, pp.34-1057, 2013.
DOI : 10.1002/humu.22347
URL : http://dx.doi.org/10.6084/M9.FIGSHARE.939459.V1

M. Glueck, P. Hamilton, F. Chevalier, S. Breslav, A. Khan et al., PhenoBlocks: Phenotype Comparison Visualizations, IEEE Transactions on Visualization and Computer Graphics, vol.22, issue.1, pp.101-110, 2016.
DOI : 10.1109/TVCG.2015.2467733
URL : https://hal.archives-ouvertes.fr/hal-01226032

T. Groza, J. Hunter, and A. Zankl, Mining Skeletal Phenotype Descriptions from Scientific Literature, PLoS ONE, vol.36, issue.2, p.55656, 2013.
DOI : 10.1371/journal.pone.0055656.t007
URL : http://doi.org/10.1371/journal.pone.0055656

R. Hennekam and L. G. Biesecker, Next-generation sequencing demands next-generation phenotyping, Human Mutation, vol.43, issue.5, pp.884-886, 2012.
DOI : 10.1002/humu.22048
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327792

D. Houle, D. R. Govindaraju, and S. Omholt, Phenomics: the next challenge, Nature Reviews Genetics, vol.11, issue.113, pp.855-866, 2010.
DOI : 10.1038/nrg2897

Z. Hu, J. H. Hung, Y. Wang, Y. C. Chang, C. L. Huang et al., VisANT 3.5: multi-scale network visualization, analysis and inference based on the gene ontology, Nucleic Acids Research, vol.37, issue.Web Server, p.406, 2009.
DOI : 10.1093/nar/gkp406

A. Katifori, C. Halatsis, G. Lepouras, C. Vassilakis, and E. Giannopoulou, Ontology visualization methods---a survey, ACM Computing Surveys, vol.39, issue.4, p.10, 2007.
DOI : 10.1145/1287620.1287621

D. Keim, G. Andrienko, J. D. Fekete, C. Görg, J. Kohlhammer et al., Visual analytics: Definition, process, and challenges, Information Visualization, pp.154-175, 2008.
DOI : 10.1007/978-3-540-70956-5_7
URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.224.2911

S. Köhler, S. C. Doelken, C. J. Mungall, and P. N. Robinson, The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data, Nucleic Acids Research, vol.42, issue.D1, 1026.
DOI : 10.1093/nar/gkt1026

S. Köhler, M. H. Schulz, P. Krawitz, and P. N. Robinson, Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies, The American Journal of Human Genetics, vol.85, issue.4, pp.457-464, 2009.
DOI : 10.1016/j.ajhg.2009.09.003

J. Krause, A. Perer, and H. Stavropoulos, Supporting Iterative Cohort Construction with Visual Temporal Queries, IEEE Transactions on Visualization and Computer Graphics, vol.22, issue.1, pp.91-100, 2016.
DOI : 10.1109/TVCG.2015.2467622

M. Krzywinski, J. Schein, I. Birol, and M. A. Marra, Circos: An information aesthetic for comparative genomics, Genome Research, vol.19, issue.9, pp.1639-1645, 2009.
DOI : 10.1101/gr.092759.109
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752132

M. Lanzenberger, J. Sampson, and M. Rester, Ontology Visualization: Tools and Techniques for Visual Representation of Semi-Structured Meta-Data, J Univer Comput Sci, vol.16, issue.7, pp.1036-1054, 2010.

A. Lex, N. Gehlenborg, H. Strobelt, R. Vuillemot, and H. Pfister, UpSet: Visualization of Intersecting Sets, IEEE Transactions on Visualization and Computer Graphics, vol.20, issue.12, pp.1983-1992, 2014.
DOI : 10.1109/TVCG.2014.2346248

Y. A. Lussier and Y. Liu, Computational Approaches to Phenotyping: High-Throughput Phenomics, Proceedings of the American Thoracic Society, vol.4, issue.1, pp.18-25, 2007.
DOI : 10.1513/pats.200607-142JG
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647609

S. Malik, F. Du, M. Monroe, and B. Shneiderman, Cohort Comparison of Event Sequences with Balanced Integration of Visual Analytics and Statistics, Proceedings of the 20th International Conference on Intelligent User Interfaces, IUI '15, pp.38-49, 2015.
DOI : 10.1145/2678025.2701407

M. Meyer, T. Munzner, and H. Pfister, MizBee: A Multiscale Synteny Browser, IEEE Transactions on Visualization and Computer Graphics, vol.15, issue.6, pp.897-904, 2009.
DOI : 10.1109/TVCG.2009.167

C. B. Nielsen, S. D. Jackman, I. Birol, and S. J. Jones, ABySS-Explorer: Visualizing Genome Sequence Assemblies, IEEE Transactions on Visualization and Computer Graphics, vol.15, issue.6, pp.881-888, 2009.
DOI : 10.1109/TVCG.2009.116

S. A. Pendergrass, S. M. Dudek, D. C. Crawford, and M. D. Ritchie, Visually integrating and exploring high throughput pwas results using PheWAS-View, BioData Min, vol.5, issue.5, 2012.
DOI : 10.1186/1756-0381-5-5

C. Perin, P. Dragicevic, and J. D. Fekete, Revisiting Bertin Matrices: New Interactions for Crafting Tabular Visualizations, IEEE Transactions on Visualization and Computer Graphics, vol.20, issue.12, pp.2082-2091, 2014.
DOI : 10.1109/TVCG.2014.2346279
URL : https://hal.archives-ouvertes.fr/hal-01023890

A. Rind, T. D. Wang, W. Aigner, and B. Shneiderman, Interactive Information Visualization to Explore and Query Electronic Health Records, Foundations and Trends?? in Human???Computer Interaction, vol.5, issue.3, pp.207-298, 2011.
DOI : 10.1561/1100000039

P. N. Robinson, Deep phenotyping for precision medicine, Human Mutation, vol.30, issue.2, pp.777-780, 2012.
DOI : 10.1002/humu.22080

P. N. Robinson, S. Köhler, S. Bauer, and S. Mundlos, The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease, The American Journal of Human Genetics, vol.83, issue.5, pp.610-615, 2008.
DOI : 10.1016/j.ajhg.2008.09.017

P. N. Robinson, C. J. Mungall, and M. Haendel, Capturing phenotypes for precision medicine, Molecular Case Studies, vol.1, issue.1, p.372, 2015.
DOI : 10.1101/mcs.a000372

M. P. Schroeder, A. Gonzalez-perez, and N. Lopez-bigas, Visualizing multidimensional cancer genomics data, Genome Medicine, vol.5, issue.1, p.9, 2013.
DOI : 10.1093/nar/27.1.29
URL : http://doi.org/10.1186/gm413

A. Shachak and S. Fine, The Effect of training on biologists acceptance of bioinformatics tools: A field experiment, Journal of the American Society for Information Science and Technology, vol.36, issue.5, pp.719-730, 2008.
DOI : 10.1002/asi.20772

P. Shannon, A. Markiel, O. Ozier, and T. Ideker, Cytoscape: A Software Environment for Integrated Models of Biomolecular Interaction Networks, Genome Research, vol.13, issue.11, pp.2498-2504, 2003.
DOI : 10.1101/gr.1239303

C. Shyr, A. Kushniruk, C. D. Van-karnebeek, and W. W. Wasserman, Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors, Journal of the American Medical Informatics Association, vol.23, issue.2, p.53, 2015.
DOI : 10.1093/jamia/ocv053

A. Sollie, R. H. Sijmons, D. Lindhout, and R. Wijburg, A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing, Human Mutation, vol.70, issue.Suppl 1, pp.34-967, 2013.
DOI : 10.1002/humu.22316

C. J. Vaske, S. C. Benz, J. Z. Sanborn, and J. M. Stuart, Inference of patient-specific pathway activities from multi-dimensional cancer genomics data using PARADIGM, Bioinformatics, vol.26, issue.12, pp.26-237, 2010.
DOI : 10.1093/bioinformatics/btq182

S. Vercruysse, A. Venkatesan, and M. Kuiper, OLSVis: an animated, interactive visual browser for bio-ontologies, BMC Bioinformatics, vol.13, issue.1, p.116, 2012.
DOI : 10.1093/bioinformatics/btm112
URL : http://doi.org/10.1186/1471-2105-13-116

R. Winnenburg and O. Bodenreider, Coverage of phenotypes in standard terminologies, Joint Bio-Ont and BioLINK ISMB, pp.41-44, 2014.

Z. Zhang, D. Gotz, and A. Perer, Iterative cohort analysis and exploration, Information Visualization, vol.17, issue.12, 2014.
DOI : 10.1109/69.553159
URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.645.506