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Mathew J. Koretsky

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Open access Jul 2026

CNV-Finder: streamlining copy number variation discovery

Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...

Nicole Kuznetsov, Kensuke Daida, M. Makarious et al. · 0 citations
Jun 2026

CLExEval: A Human-in-the-Loop Framework for Qualitative Evaluation of LLM Clinical Reasoning

Large Language Models (LLMs) achieve strong results on many medical benchmarks, but their clinical reasoning remains difficult to evaluate reliably. A central risk is an evaluation illusion: fluent and well-structured explanations can appear clinically convincing even when the final diagnosis is incorrect. We introduce...

Abin Roy, Afthab Salam Kanniyan, Jawadh Abdul Kabeer et al. · 0 citations

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