Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...
J. Thomassen, H. Leonard, Brittany Ulms et al.· Nature Genetics· 0 citations
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.· Bioinformatics Advances· 0 citations
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.· arXiv.org· 0 citations
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