AskBeacon -- Performing genomic data exchange and analytics with natural language

Wickramarachchi, Anuradha, Tonni, Shakila, Majumdar, Sonali, Karimi, Sarvnaz, Kõks, Sulev, Hosking, Brendan, Rambla, Jordi, Twine, Natalie A., Jain, Yatish, Bauer, Denis C.

arXiv.org Artificial Intelligence 

For the two investigated workflows, there are significant difference in the prediction of variants terms and additional phenotypic filtering terms. An intuitive comparison between the parallel and multistep extraction model is that, in the parallel workflow the models' instructions are rather simple, where the model is asked to predict only variants specific fields (variants extractor template) and other fields (filter extractor template) not concerning about the presence of the fields in the Beacon schema. Not all extracted terms in this extractor chain are valid for Beacon. A further validator template is further required here to filter out the terms that are not related to Beacon. In contrast, in the multistep workflow, both the variants and phenotypic terms are extracted only when they match with the beacon schema without the necessity of the validation prompt. Thus, although these models are predicting less terms, the extracted terms are aligned with the schema with less hallucination than the Parallel schema, as seen in previous section.

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