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This study demonstrates a practical application of large language models to automate the discovery of scientific cohorts from literature, significantly reducing reliance on manual searches and curated catalogs. By generating queries and extracting cohort names with accuracy comparable to human annotators, this framework offers researchers an efficient tool for planning multi-study analyses in genetics and other fields.
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Large language model-assisted discovery of cohorts from scientific literature

arXiv3 min read

arXiv:2608.15909v1 Announce Type: cross Abstract: Background: Planning multi-study analyses requires identifying cohorts with the relevant participants, phenotypes, and data modalities. This process commonly relies on prior knowledge, cohort catalogues, and manual literature searches. We developed a complementary question-driven framework that searches relevant scientific literature and extracts explicit cohort names. Methods: The framework first generates multiple PubMed queries from configurable vocabularies and templates and retrieves the resulting scientific literature automatically through the PubMed API. A large language model then screens the retrieved titles and abstracts and extracts explicit cohort names using a prompt tailored to the research question. The extracted names are deduplicated with human review. Configurable code, prompts, and example outputs are available at https://gitlab.rz.uni-frankfurt.de/cap_molgenlab/literature-cohort-discovery. Evaluation: As a use case, we applied the framework to youth aggression genetics. From 5,400 generated PubMed queries, the framework retrieved 5,254 unique records and identified 188 candidate cohorts. Manual screening using predefined criteria, including participant age and genetic-data availability, retained 44 eligible cohorts. Automated LLM-based name extraction was within the agreement range of human annotators. We also searched four established cohort catalogues using the same research question. Their combined results contained 27 of the 44 eligible cohorts, while 17 were not returned by any cohort catalogue search. Conclusion: The framework converts research-question-specific vocabulary into screenable cohort inventories via a large, automated literature search. It can be adapted across populations, phenotypes, data modalities, and study designs, and provides a literature-based complement to curated cohort catalogues.

Abstract:Background: Planning multi-study analyses requires identifying cohorts with the relevant participants, phenotypes, and data modalities. This process commonly relies on prior knowledge, cohort catalogues, and manual literature searches. We developed a complementary question-driven framework that searches relevant scientific literature and extracts explicit cohort names. Methods: The framework first generates multiple PubMed queries from configurable vocabularies and templates and retrieves the resulting scientific literature automatically through the PubMed API. A large language model then screens the retrieved titles and abstracts and extracts explicit cohort names using a prompt tailored to the research question. The extracted names are deduplicated with human review. Configurable code, prompts, and example outputs are available at this https URL. Evaluation: As a use case, we applied the framework to youth aggression genetics. From 5,400 generated PubMed queries, the framework retrieved 5,254 unique records and identified 188 candidate cohorts. Manual screening using predefined criteria, including participant age and genetic-data availability, retained 44 eligible cohorts. Automated LLM-based name extraction was within the agreement range of human annotators. We also searched four established cohort catalogues using the same research question. Their combined results contained 27 of the 44 eligible cohorts, while 17 were not returned by any cohort catalogue search. Conclusion: The framework converts research-question-specific vocabulary into screenable cohort inventories via a large, automated literature search. It can be adapted across populations, phenotypes, data modalities, and study designs, and provides a literature-based complement to curated cohort catalogues.

Information Retrieval (cs.IR); Computation and Language (cs.CL)

arXiv:2608.15909 [cs.IR]

(or arXiv:2608.15909v1 [cs.IR] for this version)

https://doi.org/10.48550/arXiv.2608.15909 Focus to learn more arXiv-issued DOI via DataCite (pending registration)

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Full text under the publisher's open licence · 335 words

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