Presentation by: Dongyu Liu PhD, Associate Director, Translational Sciences from Sanofi at Linguamatics Text Mining Summit 2017.
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The human leukocyte antigen (HLA) region is the most polymorphic region of the human genome. HLA alleles have been associated with more than 40 different autoimmune diseases, various types of cancer, Infectious disease and drug adverse events. However, there are no known resources that systematically annotate the association of HLA alleles and diseases. In an internal multiple sclerosis biomarker project, we have established a whole exome sequencing based HLA Typing and analysis workflow and identified over 400 HLA alleles. We applied Linguamatics I2E platform to search the literature to annotate the association of the HLA alleles with diseases and drug hypersensitivity. A web interface with searching function is created to review the text mining results and stored the curated the annotation to a backend knowledge base.