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Identification of Sequence Variants of Genes from Biomedical Literature: The OSIRIS Approach
Abstract
SNPs constitute key elements in genetic epidemiology and pharmacogenomics. While data about genetic variation is found at sequence databases, functional and phenotypic information on consequences of the variations resides in literature. Literature mining is mainly hampered by the terminology problem. Thus, automatic systems for the identification of citations of allelic variants of genes in biomedical texts are required. We have reported the development of OSIRIS, aimed at retrieving literature about allelic variants of genes, a system that evolved towards a new version incorporating a new entity recognition module. The new version is based on a terminology of variations and a pattern-based search algorithm for the identification of variation terms and their disambiguation to dbSNP identifiers. OSIRISv1.2 can be used to link literature references to dbSNP database entries with high accuracy, and is suitable for collecting current knowledge on gene sequence variations for supporting the functional annotation of variation databases.
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