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/

A Relevance Feedback-Based System For Quickly Narrowing Biomedical Literature Search Result

The online literature is an important source that helps people find the information. The quick increase of online literature makes the manual search process for the most relevant information a very time-consuming task and leads to sifting through many results to find the relevant ones. The existing search engines and online databases return a list of results that satisfy the user\u27s search criteria. The list is often too long for the user to go through every hit if he/she does not exactly know what he/she wants or/and does not have time to review them one by one. My focus is on how to find biomedical literature in a fastest way. In this dissertation, I developed a biomedical literature search system that uses relevance feedback mechanism, fuzzy logic, text mining techniques and Unified Medical Language System. The system extracts and decodes information from the online biomedical documents and uses the extracted information to first filter unwanted documents and then ranks the related ones based on the user preferences. I used text mining techniques to extract PDF document features and used these features to filter unwanted documents with the help of fuzzy logic. The system extracts meaning and semantic relations between texts and calculates the similarity between documents using these relations. Moreover, I developed a fuzzy literature ranking method that uses fuzzy logic, text mining techniques and Unified Medical Language System. The ranking process is utilized based on fuzzy logic and Unified Medical Language System knowledge resources. The fuzzy ranking method uses semantic type and meaning concepts to map the relations between texts in documents. The relevance feedback-based biomedical literature search system is evaluated using a real biomedical data that created using dobutamine (drug name). The data set contains 1,099 original documents. To obtain coherent and reliable evaluation results, two physicians are involved in the system evaluation. Using (30-day mortality) as specific query, the retrieved result precision improves by 87.7% in three rounds, which shows the effectiveness of using relevance feedback, fuzzy logic and UMLS in the search process. Moreover, the fuzzy-based ranking method is evaluated in term of ranking the biomedical search result. Experiments show that the fuzzy-based ranking method improves the average ranking order accuracy by 3.35% and 29.55% as compared with UMLS meaning and semantic type methods respectively

Information retrieval and text mining technologies for chemistry

Efficient access to chemical information contained in scientific literature, patents, technical reports, or the web is a pressing need shared by researchers and patent attorneys from different chemical disciplines. Retrieval of important chemical information in most cases starts with finding relevant documents for a particular chemical compound or family. Targeted retrieval of chemical documents is closely connected to the automatic recognition of chemical entities in the text, which commonly involves the extraction of the entire list of chemicals mentioned in a document, including any associated information. In this Review, we provide a comprehensive and in-depth description of fundamental concepts, technical implementations, and current technologies for meeting these information demands. A strong focus is placed on community challenges addressing systems performance, more particularly CHEMDNER and CHEMDNER patents tasks of BioCreative IV and V, respectively. Considering the growing interest in the construction of automatically annotated chemical knowledge bases that integrate chemical information and biological data, cheminformatics approaches for mapping the extracted chemical names into chemical structures and their subsequent annotation together with text mining applications for linking chemistry with biological information are also presented. Finally, future trends and current challenges are highlighted as a roadmap proposal for research in this emerging field.A.V. and M.K. acknowledge funding from the European Community’s Horizon 2020 Program (project reference: 654021 - OpenMinted). M.K. additionally acknowledges the Encomienda MINETAD-CNIO as part of the Plan for the Advancement of Language Technology. O.R. and J.O. thank the Foundation for Applied Medical Research (FIMA), University of Navarra (Pamplona, Spain). This work was partially funded by Consellería de Cultura, Educación e Ordenación Universitaria (Xunta de Galicia), and FEDER (European Union), and the Portuguese Foundation for Science and Technology (FCT) under the scope of the strategic funding of UID/BIO/04469/2013 unit and COMPETE 2020 (POCI-01-0145-FEDER-006684). We thank Iñigo Garciá -Yoldi for useful feedback and discussions during the preparation of the manuscript.info:eu-repo/semantics/publishedVersio