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Lukowski, M.

Publications and source records attributed to Lukowski, M..

2 recordsLinked to original sources

Query Augmented Generation (QAG) from the Genomic DataCommons for Accurate Variant Statistics

In precision oncology, researchers often use public knowledgebases to check somatic variant frequencies against their cohort data. Large language models (LLMs) can quickly answer questions on somatic variant frequencies, but often hallucinate and give inaccurate results for factual data. Using synthetic queries, we show that somatic variant frequencies in baseline LLM responses are underestimated compared to the Genomic Data Commons (GDC), the worlds largest data commons for cancer research. We present a modular architecture called Query Augmented Generation (QAG) for integrating LLMs with high-quality data from a third party data source such as a data commons, knowledgebase or database. We apply QAG to the GDC to help researchers obtain accurate frequencies for somatic variants, copy number variants, and MSI status--even for complex queries requiring multiple steps in the GDC portal and API. Our software is deployed as a model context protocol (MCP) server on Hugging Face and available on GitHub.

bioinformatics↗

Towards Self-Describing and FAIR Bulk Formats for Biomedical Data

We introduce a self-describing serialized format for bulk biomedical data called the Portable Format for Biomedical (PFB) data. The Portable Format for Biomedical data is based upon Avro and encapsulates a data model, a data dictionary, the data itself, and pointers to third party controlled vocabularies. In general, each data element in the data dictionary is associated with a third party controlled vocabulary to make it easier for applications to harmonize two or more PFB files. We describe experimental studies showing the performance improvements when importing and exporting bulk biomedical data in the PFB format versus using JSON and SQL formats.

bioinformatics↗