Assisted Mining and Curation of Genomic Variants using Egas

Egas is a web-based platform for text-mining assisted literature curation, supporting the annotation and normalization of concept mentions and relations between concepts. Egas allows the definition of different curation projects with specific configuration in terms of the concepts and relations of interest for a given annotation task, as well as the ontologies used for normalizing each concept type. Annotations may be performed over raw documents or over 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. In this paper, we describe Egas and demonstrate its use for the curation of inherited gene mutation data and associated clinical attributes, such as zygosity, penetrance or inheritance mode. The Egas tool is compatible with most recent versions of Google Chrome, Mozilla Firefox, Internet Explorer and Safari and is available at https://demo.bmd-software.com/egas/.