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OpenAccess publication Phenomics and its role in next generation sequencing
Groza, T.;
PATHOLOGY 48 Suppl 1:S30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Smedley, D.; Schubach, M.; Jacobsen, J. O.; Kohler, S.; Zemojtel, T.; Spielmann, M.; Jager, M.; Hochheiser, H.; Washington, N. L.; McMurry, J. A.; Haendel, M. A.; Mungall, C. J.; Lewis, S. E.; Groza, T.; Valentini, G.; Robinson, P. N.;
AM J HUM GENET 99(3):595-606, 2016
Special issue on bio-ontologies and phenotypes
Soldatova, L. N.; Collier, N.; Oellrich, A.; Groza, T.; Verspoor, K.; Rocca-Serra, P.; Dumontier, M.; Shah, N. H.;
Journal of Biomedical Semantics 6:40, 2015
OpenAccess publication Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Mungall, C. J.; Washington, N. L.; Nguyen-Xuan, J.; Condit, C.; Smedley, D.; Kohler, S.; Groza, T.; Shefchek, K.; Hochheiser, H.; Robinson, P. N.; Lewis, S. E.; Haendel, M. A.;
HUMAN MUTATION 36(10):979-84, 2015
Automatic concept recognition using the human phenotype ontology reference and test suite corpora
Groza, T.; Kohler, S.; Doelken, S.; Collier, N.; Oellrich, A.; Smedley, D.; Couto, F. M.; Baynam, G.; Zankl, A.; Robinson, P. N.;
Database: The Journal of Biological Databases and Curation 2015 2015
OpenAccess publication PhenoMiner: from text to a database of phenotypes associated with OMIM diseases
Collier, N.; Groza, T.; Smedley, D.; Robinson, P. N.; Oellrich, A.; Rebholz-Schuhmann, D.;
Database: The Journal of Biological Databases and Curation 2015:1-12, 2015
OpenAccess publication The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Groza, T.; Kohler, S.; Moldenhauer, D.; Vasilevsky, N.; Baynam, G.; Zemojtel, T.; Schriml, L. M.; Kibbe, W. A.; Schofield, P. N.; Beck, T.; Vasant, D.; Brookes, A. J.; Zankl, A.; Washington, N. L.; Mungall, C. J.; Lewis, S. E.; Haendel, M. A.; Parkinson, H.; Robinson, P. N.;
AM J HUM GENET 97(1):111-24, 2015
OpenAccess publication A supervised approach to quantifying sentence similarity: with application to evidence based medicine
Hassanzadeh, H.; Groza, T.; Nguyen, A.; Hunter, J.;
PLoS ONE 10(6):e0129392, 2015
Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes
Oellrich, A.; Collier, N.; Smedley, D.; Groza, T.;
PLoS ONE 10(1):e0116040, 2015