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Retrieval of whole human genome clinical variant information through search motors

By Li Yin, Julia di Iulio, Sebastian Lelong, Chunlei Wu, Amalio Telenti

Posted 05 Apr 2019
bioRxiv DOI: 10.1101/600098

The interpretation of variation in the human genome constitutes one of the most pressing challenges in biomedicine. There are many academic and proprietary resources that provide annotation, interpretation, scoring and knowledge of genetic variants under multiple access modalities. For these resources, information is available through portals, wikis, APIs, curated content and databases, and pipelines. Here we explore the use of search motors to provide facilitated access to the main sources of information that are used by clinical geneticists and researchers. We also support the browsing experience with natural language processing and automated summaries of available information. The resulting tool, ai-OMNI.com, is intrinsically flexible, expandable and intuitive, thus providing a different experience for querying the human genome for the consequences of variation.

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