Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation
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Gautier Koscielny | Samiul Hasan | Simon Jupp | A. Patrícia Bento | James Malone | Helen E. Parkinson | Gary Saunders | Sirarat Sarntivijai | Daniel Gonzalez | Ian Dunham | Drashtti Vasant | Joanna Betts
[1] Benjamin M. Good,et al. Microtask Crowdsourcing for Disease Mention Annotation in PubMed Abstracts , 2014, Pacific Symposium on Biocomputing.
[2] Alan Ruttenberg,et al. MIREOT: The minimum information to reference an external ontology term , 2009, Appl. Ontology.
[3] Robert Arp,et al. Function, Role and Disposition in Basic Formal Ontology , 2008 .
[4] Avi Ma'ayan,et al. Lean Big Data integration in systems biology and systems pharmacology. , 2014, Trends in pharmacological sciences.
[5] Carsten Sinz,et al. Reducing False Positives by Combining Abstract Interpretation and Bounded Model Checking , 2008, 2008 23rd IEEE/ACM International Conference on Automated Software Engineering.
[6] Simon Jupp,et al. Collaborative Ontology Development Using the Webulous Architecture and Google App , 2015, SWAT4LS.
[7] Andrew M. Jenkinson,et al. The EBI RDF platform: linked open data for the life sciences , 2014, Bioinform..
[8] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[9] E. Brown,et al. The Medical Dictionary for Regulatory Activities (MedDRA) , 1999, Drug safety.
[10] Judith A. Blake,et al. Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon , 2014, Journal of Biomedical Semantics.
[11] Chris Mungall,et al. What's in a Genotype?: An Ontological Characterization for Integration of Genetic Variation Data , 2013, ICBO.
[12] D. Cooper,et al. Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain , 2012, Human mutation.
[13] C E Lipscomb,et al. Medical Subject Headings (MeSH). , 2000, Bulletin of the Medical Library Association.
[14] Peter N. Robinson,et al. The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease , 2015, American journal of human genetics.
[15] Prakash M. Nadkarni,et al. Research Paper: Use of General-purpose Negation Detection to Augment Concept Indexing of Medical Documents: A Quantitative Study Using the UMLS , 2001, J. Am. Medical Informatics Assoc..
[16] Dietrich Rebholz-Schuhmann,et al. Text processing through Web services: calling Whatizit , 2008, Bioinform..
[17] Rachael P. Huntley,et al. Standardized description of scientific evidence using the Evidence Ontology (ECO) , 2014, Database J. Biol. Databases Curation.
[18] Chao Chen,et al. dbVar and DGVa: public archives for genomic structural variation , 2012, Nucleic Acids Res..
[19] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[20] Organización Mundial de la Salud. Guidelines for ATC classification and DDD assignment , 1996 .
[21] R. Rapini,et al. Dermatologic manifestations of colonic disorders , 2009, Current opinion in gastroenterology.
[22] Christoph Steinbeck,et al. The ChEBI reference database and ontology for biologically relevant chemistry: enhancements for 2013 , 2012, Nucleic Acids Res..
[23] Larry Wright,et al. Overview and Utilization of the NCI Thesaurus , 2004, Comparative and functional genomics.
[24] A Stepanova,et al. [Association of psoriasis and congenital lamellar ichthyosis]. , 2001, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.
[25] J. Rashbass. Online Mendelian Inheritance in Man. , 1995, Trends in genetics : TIG.
[26] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[27] W. Küster,et al. Zusammentreffen einer Psoriasis und einer kongenitalen lamellären Ichthyose , 2001, Der Hautarzt.
[28] Gang Fu,et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data , 2014, Nucleic Acids Res..
[29] Sophia Ananiadou,et al. Europe PMC: a full-text literature database for the life sciences and platform for innovation , 2014, Nucleic Acids Res..
[30] Janan T Eppig,et al. The mammalian phenotype ontology: enabling robust annotation and comparative analysis , 2009, Wiley interdisciplinary reviews. Systems biology and medicine.
[31] Yue Liu,et al. CLO: The cell line ontology , 2014, J. Biomed. Semant..
[32] Anna Zhukova,et al. Modeling sample variables with an Experimental Factor Ontology , 2010, Bioinform..
[33] Nicolette de Keizer,et al. Forty years of SNOMED: a literature review , 2008, BMC Medical Informatics Decis. Mak..
[34] Olivier Bodenreider,et al. The Unified Medical Language System (UMLS): integrating biomedical terminology , 2004, Nucleic Acids Res..