Search results for "OMIM"

Hits ?▲	Authors	Title	Venue	Year	Link	Author keywords
70	Jens Bleiholder, Zoé Lacroix, Hyma Murthy, Felix Naumann, Louiqa Raschid, Maria-Esther Vidal	BioFast: Challenges in Exploring Linked Life Science Sources.	SIGMOD Rec.	2004	DBLP DOI BibTeX RDF
61	Joanna S. Amberger, Carol A. Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh	OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.	Nucleic Acids Res.	2015	DBLP DOI BibTeX RDF
47	Marco Masseroli	Management and Analysis of Genomic Functional and Phenotypic Controlled Annotations to Support Biomedical Investigation and Practice.	IEEE Trans. Inf. Technol. Biomed.	2007	DBLP DOI BibTeX RDF
36	Andrea Sturm, Cameron McMunn-Coffran, D. Frank Hsu, Kuan-Tsae Huang	Genetic Information Gathering System (GIGS): A New Meta-search Network Tool.	ISPAN	2009	DBLP DOI BibTeX RDF	GIGS, OMIM, Networks, Medical Informatics
30	K. M. Tahsin Hassan Rahit, Vladimir Avramovic, Jessica X. Chong, Maja Tarailo-Graovac	GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM.	BMC Bioinform.	2024	DBLP DOI BibTeX RDF
30	Ping Luo 0003, Li-Ping Tian 0001, Jishou Ruan, Fang-Xiang Wu	Disease Gene Prediction by Integrating PPI Networks, Clinical RNA-Seq Data and OMIM Data.	IEEE ACM Trans. Comput. Biol. Bioinform.	2019	DBLP DOI BibTeX RDF
30	Joanna S. Amberger, Carol A. Bocchini, Alan F. Scott, Ada Hamosh	OMIM.org: leveraging knowledge across phenotype-gene relationships.	Nucleic Acids Res.	2019	DBLP DOI BibTeX RDF
30	Susan M. Bello, Cynthia L. Smith, Lynn M. Schriml	Integrating and Maintaining OMIM Cross-references in the Disease Ontology.	ICBO	2019	DBLP BibTeX RDF
30	Nigel Collier, Tudor Groza, Damian Smedley, Peter N. Robinson, Anika Oellrich, Dietrich Rebholz-Schuhmann	PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.	Database J. Biol. Databases Curation	2015	DBLP DOI BibTeX RDF
30	Maori Ito, Shin-ichi Nakagawa, Kenji Mizuguchi, Takashi Okumura	Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base.	IEA/AIE	2015	DBLP DOI BibTeX RDF
30	Li Jiang, Stefan M. Edwards, Bo Thomsen, Christopher T. Workman, Bernt Guldbrandtsen, Peter Sørensen	A random set scoring model for prioritization of disease candidate genes using protein complexes and data-mining of GeneRIF, OMIM and PubMed records.	BMC Bioinform.	2014	DBLP DOI BibTeX RDF
30	Xavier Aimé, Jean Charlet, Frédéric Fürst, Pascale Kuntz, Francky Trichet, Ferdinand Dhombres	Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM.	MIE	2012	DBLP DOI BibTeX RDF
30	Han J. W. van Triest, Jianhua Li, Duanxi Cao, Shuhong Wang, Jingshu Zhang, Huiqi Xie, Yan Kang, Jesse Li-Ling	OMIM data - standardized input and pair-wise comparison.	FSKD	2012	DBLP DOI BibTeX RDF
30	Raphael Cohen, Avitan Gefen, Michael Elhadad, Ohad S. Birk	Clinical Synopsis Search in OMIM.	BMC Bioinform.	2011	DBLP DOI BibTeX RDF
30	Han J. W. van Triest, Danqi Chen 0001, Xinglai Ji, Shouliang Qi, Jesse Li-Ling	PhenOMIM: An OMIM-based secondary database purported for phenotypic comparison.	EMBC	2011	DBLP DOI BibTeX RDF
30	Susan M. Bello, Allan Peter Davis, Thomas C. Wiegers, Mary E. Dolan, Cynthia L. Smith, Joel E. Richardson, Judith A. Blake, Carolyn J. Mattingly, Janan T. Eppig	Waiting for a Robust Disease Ontology: A Merger of OMIM and MeSH as a Practical Interim Solution.	ICBO	2011	DBLP BibTeX RDF
30	Joanna S. Amberger, Carol A. Bocchini, Alan F. Scott, Ada Hamosh	McKusick's Online Mendelian Inheritance in Man (OMIM®).	Nucleic Acids Res.	2009	DBLP DOI BibTeX RDF
30	Shanfeng Zhu, Yasushi Okuno, Gozoh Tsujimoto, Hiroshi Mamitsuka	Predicting implicit associated cancer genes from OMIM and MEDLINE by a new probabilistic model.	BMC Syst. Biol.	2007	DBLP DOI BibTeX RDF
30	Chris D. Bajdik, Byron Kuo, Shawn Rusaw, Steven J. M. Jones, Angela Brooks-Wilson	CGMIM: Automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes.	BMC Bioinform.	2005	DBLP DOI BibTeX RDF
30	Ada Hamosh, Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini, Victor A. McKusick	Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.	Nucleic Acids Res.	2005	DBLP DOI BibTeX RDF
30	Michael N. Cantor, Yves A. Lussier	Mining OMIM$^{\trade}$ for Insight into Complex Diseases.	MedInfo	2004	DBLP DOI BibTeX RDF
30	Teruyoshi Hishiki, Osamu Ogasawara, Yoshimasa Tsuruoka, Kousaku Okubo	Indexing anatomical concepts to OMIM Clinical Synopsis using UMLS Metathesaurus.	Silico Biol.	2003	DBLP BibTeX RDF
30	Ada Hamosh, Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini, David Valle, Victor A. McKusick	Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.	Nucleic Acids Res.	2002	DBLP DOI BibTeX RDF
23	Fang Yuan, Yanhong Zhou	CDGMiner: A New Tool for the Identification of Disease Genes by Text Mining and Functional Similarity Analysis.	ICIC (2)	2008	DBLP DOI BibTeX RDF
23	Toralf Kirsten, Andreas Thor, Erhard Rahm	Instance-Based Matching of Large Life Science Ontologies.	DILS	2007	DBLP DOI BibTeX RDF	instance-based matching, match evaluation, Ontology matching
23	Phil Hyoun Lee, Hagit Shatkay	Two Birds, One Stone: Selecting Functionally Informative Tag SNPs for Disease Association Studies.	WABI	2007	DBLP DOI BibTeX RDF
23	Amandeep S. Sidhu, Tharam S. Dillon, Elizabeth Chang 0001	Ontological Foundation for Protein Data Models.	OTM Workshops	2005	DBLP DOI BibTeX RDF
23	Amandeep S. Sidhu, Tharam S. Dillon, Elizabeth Chang 0001, Baldev S. Sidhu	OWL, Proteins and Data Integration.	Australian Conference on Artificial Intelligence	2005	DBLP DOI BibTeX RDF	Information Retrieval, Knowledge Representation, Data Integration, Biomedical Ontologies, Protein Ontology
23	Zoé Lacroix, Vidyadhari Edupuganti	How Biological Source Capabilities May Affect the Data Collection Process.	CSB	2004	DBLP DOI BibTeX RDF