Variation ontology: annotator guide.

Systematic representation of information related to genetic and non-genetic variations is required to allow large scale studies, data mining and data integration, and to make it possible to reveal novel relationships between genotype and phenotype. Although lots of variation data is available it is often difficult to use due to lack of systematics

Mining clinical attributes of genomic variants through assisted literature curation in Egas

The veritable deluge of biological data over recent years has led to the establishment of a considerable number of knowledge resources that compile curated information extracted from the literature and store it in structured form, facilitating its use and exploitation. In this article, we focus on the curation of inherited genetic variants and associated clinical attributes, such as zygosity, penetrance or inheritance mode, and describe the use of Egas for this task. Egas is a web-based platform for text-mining assisted literature curation that focuses on usability through modern design solutions and simple user interactions. Egas offers a flexible and customizable tool that allows defining the concept types and relations of interest for a given annotation task, as well as the ontologies used for normalizing each concept type. Further, annotations may be performed on raw documents or on the results of automated concept identification and relation extraction tools. Users can inspect, correct or remove automatic text-mining results, manually add new annotations, and export the results to standard formats. Egas is compatible with the most recent versions of Google Chrome, Mozilla Firefox, Internet Explorer and Safari and is available for use at https://demo.bmd-software.com/egas/

Enhancing automatic extration of biomedical relations using different linguistic features extracted from text

Tesis inédita de la Universidad Complutense de Madrid, Facultad de Informática, Departamento de Ingeniería del Software e Inteligencia Artificial, leída el 08-06-2017La extracción de relaciones entre entidades es una tarea muy importante dentro del procesamiento de textos biomédicos. Cada vez hay más información sobre este tipo de interacciones almacenada en bases de datos, pero sin embargo la mayor cantidad de información relacionada con el tema está presente en artículos científicos o en recursos donde la información se almacena en formato textual.Las interacciones entre fármacos son, en particular, una preocupación generalizada en medicina, por esa razón la extracción automática de este tipo de relaciones es una tarea muy demandada en el procesamiento de textos biomédicos. Una interacción entre 2 fármacos normalmente se produce cuando un fármaco altera el nivel de actividad de otro fármaco. De acuerdo a los informes presentados por la Adminsitración Nacional de Alimentos y Fármacos de Estados Unidos y otros estudios reconocidos [1], cada año se producen más de 2 millones de interacciones mortales entre fármacos. Muchos investigadores y compañías farmaceúticas han desarrollado bases de datos donde estas interacciones son almacenadas. Sin embargo, la información más actualizada y valiosa sigue apareciendo sólo en documentos no estructurados en formato textual, incluyendo publicaciones científicas e informes técnicos.En esta tesis se estudian 3 conjuntos de características lingüísticas de los textos: negación,dependencia clausal y candidatos neutros. El objetivo final de la investigación es mejorar el rendimiento de la tarea de extracción de interacciones entre fármacos considerando las combinaciones de las características lingüísticas extraídas de los textos con métodos de aprendizaje basados en kernel...Extracting biomedical relations from texts is a relatively new, but rapidly growing researchfield in natural language processing (NLP). Due to the increasing number of biomedicalresearch publications and the key role of databases of biomedical relations in biological andmedical research, extracting biomedical relations from scientific articles and text resourcesis of utmost importance.Drug-drug interactions (DDI) are, in particular, a widespread concern in medicine, and thus,extracting this kind of interactions automatically from texts is of high demand in BioNLP. Adrug-drug interaction usually occurs when one drug alters the activity level of another drug.According to the reports prepared by the U. S. Food and Drug Administration (the FDA) andother acknowledged studies [1], over 2 million life-threatening DDIs occur in the UnitedStates every year. Many academic researchers and pharmaceutical companies havedeveloped relational and structural databases, where DDIs are recorded. Nevertheless,most up-to-date and valuable information is still found only in unstructured research textdocuments, including scientific publications and technical reports.In this thesis, three complementary, linguistically driven, feature sets, are studied: negation,clause dependency, and neutral candidates. The ultimate aim of this research is to enhancethe performance of the DDI extraction task by considering the combinations of theextracted features with well-established kernel methods...Depto. de Ingeniería de Software e Inteligencia Artificial (ISIA)Fac. de InformáticaTRUEunpu