T. Arndt, Visual software tools for bioinformatics, Journal of Visual Languages & Computing, vol.19, issue.2, pp.291-301, 2008.
DOI : 10.1016/j.jvlc.2007.06.001

J. F. Arocha, V. L. Patel, and Y. C. Patel, Hypothesis Generation and the Coordination of Theory and Evidence in Novice Diagnostic Reasoning, Medical Decision Making, vol.13, issue.3, pp.198-211, 1993.
DOI : 10.1177/0272989X9301300305

. Phenotyping, Targeting genotype's rich cousin for diagnosis, Journal of paediatrics and child health

H. Binder, L. Hopp, K. Lembcke, and H. Wirth, Chapter 15: Personalized disease phenotypes from massive OMICs data, Big Data Analytics in Bioinformatics and Healthcare. Med. Info. Sci. Reference, 2014.
DOI : 10.4018/978-1-4666-9840-6.ch105

S. Bremm, T. Von-landesberger, M. Heß, T. Schreck, P. Weil et al., Interactive visual comparison of multiple trees, 2011 IEEE Conference on Visual Analytics Science and Technology (VAST), pp.31-40, 2011.
DOI : 10.1109/VAST.2011.6102439

L. Chittaro, C. Combi, and G. Trapasso, Data mining on temporal data: a visual approach and its clinical application to hemodialysis, Journal of Visual Languages & Computing, vol.14, issue.6, pp.591-620, 2003.
DOI : 10.1016/j.jvlc.2003.06.003

A. Clare, Chapter 6: Integration of Genomic and Phenotypic Data. Data analysis and visualization in genomics and proteomics, 2005.
DOI : 10.1002/0470094419.ch6

J. C. Denny, M. D. Ritchie, . Basford, and D. C. Crawford, PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations, Bioinformatics, vol.26, issue.9, pp.26-1205, 2010.
DOI : 10.1093/bioinformatics/btq126

A. S. Elstein, L. S. Shulman, and S. A. Sprafka, Medical problem solving: An analysis of clinical reasoning, 1978.
DOI : 10.4159/harvard.9780674189089

P. J. Feltovich, P. E. Johnson, J. H. Moller, and D. B. Swanson, LCS: The role and development of medical knowledge in diagnostic expertise. Readings in medical artificial intelligence, pp.275-319, 1984.

J. A. Ferstay, C. B. Nielsen, and T. Munzner, Variant View: Visualizing Sequence Variants in their Gene Context, IEEE Transactions on Visualization and Computer Graphics, vol.19, issue.12, pp.2546-2555, 2013.
DOI : 10.1109/TVCG.2013.214

M. Fiume, E. J. Smith, A. Brook, and M. Brudno, Savant Genome Browser 2: visualization and analysis for population-scale genomics, 14] FORGE Canada Consortium, pp.615-621, 2012.
DOI : 10.1093/nar/gks427

M. Girdea, S. Dumitriu, M. Fiume, and M. Brudno, 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. Groves, P. O-'rourke, and H. Alexander, The clinical reasoning characteristics of diagnostic experts, Medical Teacher, vol.29, issue.4, pp.308-313, 2003.
DOI : 10.1080/0142159031000100427

M. Graham and J. Kennedy, A Survey of Multiple Tree Visualisation, Information Visualization, vol.54, issue.3, pp.235-252, 2010.
DOI : 10.1057/ivs.2009.29

T. Gschwandtner, W. Aigner, K. Kaiser, S. Miksch, and A. Seyfang, CareCruiser: Exploring and visualizing plans, events, and effects interactively, 2011 IEEE Pacific Visualization Symposium, pp.43-50, 2011.
DOI : 10.1109/PACIFICVIS.2011.5742371

J. Guerra-gomez, M. L. Pack, C. Plaisant, and B. Shneiderman, Visualizing Change over Time Using Dynamic Hierarchies: TreeVersity2 and the StemView, IEEE Transactions on Visualization and Computer Graphics, vol.19, issue.12, pp.19-2566, 2013.
DOI : 10.1109/TVCG.2013.231

M. Harrower and C. A. Brewer, ColorBrewer.org: An Online Tool for Selecting Colour Schemes for Maps, The Cartographic Journal, vol.40, issue.1, pp.27-37, 2003.
DOI : 10.1179/000870403235002042

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

R. J. Heuer, Psychology of intelligence analysis, 1999.

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

K. L. Jones, M. C. Jones, and M. Campo, Smith's recognizable patterns of human malformation, 2013.

J. R. Josephson and S. G. Josephson, Abductive inference: Computation, philosophy, technology, 1996.
DOI : 10.1017/CBO9780511530128

Y. A. Kang and J. Stasko, Characterizing the intelligence analysis process: Informing visual analytics design through a longitudinal field study, 2011 IEEE Conference on Visual Analytics Science and Technology (VAST), pp.21-30, 2011.
DOI : 10.1109/VAST.2011.6102438

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, pp.154-175, 2008.
DOI : 10.1007/978-3-540-70956-5_7

URL : https://hal.archives-ouvertes.fr/lirmm-00272779

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

S. Köhler, S. C. Doelken, . Mungall, and P. N. Robinson, The Human Phenotype Ontology project, Nucleic acids research, 2013.

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

Z. Liu, N. J. Nersessian, and J. T. Stasko, Distributed cognition as a theoretical framework for information visualization, TVCG, vol.14, issue.6, pp.1173-1180, 2008.

Y. A. Lussier and Y. Liu, Computational Approaches to Phenotyping: High-Throughput Phenomics, Proc. Am Thoracic Society, pp.18-25, 2007.
DOI : 10.1513/pats.200607-142JG

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647609

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

T. Munzner, F. Guimbretière, S. Tasiran, L. Zhang, and Y. Zhou, TreeJuxtaposer, ACM Transactions on Graphics, vol.22, issue.3, pp.453-462, 2003.
DOI : 10.1145/882262.882291

C. B. Nielsen, M. Cantor, I. Dubchak, and T. Wang, Visualizing genomes: techniques and challenges, Nature Methods, vol.25, issue.3s, pp.5-15, 2010.
DOI : 10.1038/nmeth.1422

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.15-881, 2009.
DOI : 10.1109/TVCG.2009.116

URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.329.9728

S. A. Pendergrass, S. M. Dudek, D. C. Crawford, and M. D. Ritchie, Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View, BioData Mining, vol.89, issue.1, 2012.
DOI : 10.1016/j.ajhg.2011.09.008

P. Pirolli and S. Card, The sensemaking process and leverage points for analyst technology as identified through cognitive task analysis, Proc Intl Conf on Intelligence Analysis, pp.2-4, 2005.

C. Plaisant, R. Mushlin, A. Snyder, J. Li, D. Heller et al., LifeLines: Using Visualization to Enhance Navigation and Analysis of Patient Records, Proc. AMIA, p.76, 1998.
DOI : 10.1016/B978-155860915-0/50038-X

A. Rath, A. Olry, ?. Dhombres, and S. Ayme, Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users, Human Mutation, vol.32, issue.5, pp.803-808, 2012.
DOI : 10.1002/humu.22078

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, pp.207-298, 2011.
DOI : 10.1561/1100000039

A. Rind, W. Aigner, S. Miksch, S. Wiltner, M. Pohl et al., Visual Exploration of Time-Oriented Patient Data for Chronic Diseases: Design Study and Evaluation, pp.301-320, 2011.
DOI : 10.1109/TVCG.2009.187

P. N. Robinson, S. Köhler, S. Bauer, D. Seelow, D. Horn et al., 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 and S. Mundlos, The Human Phenotype Ontology, Clinical Genetics, vol.37, issue.2, pp.525-534, 2010.
DOI : 10.1111/j.1399-0004.2010.01436.x

URL : https://hal.archives-ouvertes.fr/inserm-00854299

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

B. Shneiderman, C. Plaisant, and B. W. Hesse, Improving Healthcare with Interactive Visualization, Computer, vol.46, issue.5, pp.58-66, 2013.
DOI : 10.1109/MC.2013.38

J. Stasko and E. Zhang, Focus+context display and navigation techniques for enhancing radial, space-filling hierarchy visualizations, IEEE Symposium on Information Visualization 2000. INFOVIS 2000. Proceedings, pp.57-65, 2000.
DOI : 10.1109/INFVIS.2000.885091

Y. Tu and H. W. Shen, Visualizing Changes of Hierarchical Data using Treemaps, IEEE Transactions on Visualization and Computer Graphics, vol.13, issue.6, pp.1286-1293, 2007.
DOI : 10.1109/TVCG.2007.70529

F. Van-ham, Using multilevel call matrices in large software projects, IEEE Symposium on Information Visualization 2003 (IEEE Cat. No.03TH8714), pp.227-232, 2003.
DOI : 10.1109/INFVIS.2003.1249030

T. D. Wang, C. Plaisant, A. J. Quinn, R. Stanchak, S. Murphy et al., Aligning temporal data by sentinel events, Proceeding of the twenty-sixth annual CHI conference on Human factors in computing systems , CHI '08, pp.457-466, 2008.
DOI : 10.1145/1357054.1357129

E. U. Weber, U. Böckenholt, D. J. Hilton, and B. Wallace, Determinants of diagnostic hypothesis generation: Effects of information, base rates, and experience., Journal of Experimental Psychology: Learning, Memory, and Cognition, vol.19, issue.5, p.1151, 1993.
DOI : 10.1037/0278-7393.19.5.1151

K. Wongsuphasawat, J. A. Guerra-gómez, C. Plaisant, T. D. Wang, M. Taieb-maimon et al., LifeFlow, Proceedings of the 2011 annual conference on Human factors in computing systems, CHI '11, pp.1747-1756, 2011.
DOI : 10.1145/1978942.1979196

J. Zhao, F. Chevalier, C. Collins, and R. Balakrishnan, Facilitating discourse analysis with interactive visualization, TVCG, vol.18, issue.12, pp.2639-2648, 2012.