Journal article

A hybrid approach for automated mutation annotation of the extended human mutation landscape in scientific literature.

Antonio Jimeno Yepes, Andrew MacKinlay, Natalie Gunn, Christine Schieber, Noel Faux, Matthew Downton, Benjamin Goudey, Richard L Martin

AMIA Annual Symposium Proceedings | Published : 2018


As the cost of DNA sequencing continues to fall, an increasing amount of information on human genetic variation is being produced that could help progress precision medicine. However, information about such mutations is typically first made available in the scientific literature, and is then later manually curated into more standardized genomic databases. This curation process is expensive, time-consuming and many variants do not end up being fully curated, if at all. Detecting mutations in the literature is the first key step towards automating this process. However, most of the current methods have focused on identifying mutations that follow existing nomenclatures. In this work, we show t..

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