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9 items matching your search terms. Sort by date (newest first) · date (oldest first) · relevance
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
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
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
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
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