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Review Open access Oct 2026

Large language model consensus for reliable research cohort construction from radiology reports: a retrospective cohort study

Background Large-scale retrospective studies often require researchers to adjudicate outcomes or cohort eligibility from unstructured clinical records. Manual review can provide reliable labels but is difficult to scale. We developed and evaluated a consensus workflow using multiple large language models (LLMs) to auto...

W. Rui, J. Ma, V. Stepanov et al. · 0 citations
Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · 0 citations

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