Genetic Diagnosis and Discovery Enabled by Large Language Models
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
Ciprofloxacin Versus Fosfomycin for Empirical Prophylaxis Before Transrectal Prostate Biopsy: Clinical, Microbiological, and Patient-Reported Outcomes from a Prospective Study. [PDF]
Burzinskis E +5 more
europepmc +1 more source
This review examines emerging combination immunotherapy strategies tailored to distinct tumor microenvironments and highlights next‐generation biomarkers that guide response prediction and treatment personalization. It integrates lessons from unsuccessful trials, addresses toxicity challenges, and outlines approaches for early biomarker discovery and ...
Asmita Pandey +6 more
wiley +1 more source
Concordance Between Subtest-Based and Domain Score-Based Determinations of Cognitive Impairment on the SNSB-II. [PDF]
Ban Y, Lee HH, Lim JS, Kang Y.
europepmc +1 more source
cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao +7 more
wiley +1 more source
CSPG4 is identified as a high‐value, stemness‐associated target in HPV‐negative HNSCC. By implementing rational biophysical engineering, a humanized and charge‐optimized CAR is developed to overcome tonic signaling‐induced exhaustion. This strategy induces a profound transcriptomic shift toward a rejuvenated, stem‐like memory state, significantly ...
Xiang Xu +13 more
wiley +1 more source
This study delineates macrophage heterogeneity along the acute kidney injury to chronic kidney disease transition. Single‐cell RNA sequencing reveals a TRAP5+ scar‐associated macrophage subset driven by Spp1–Cd44 signaling and mitochondrial metabolic reprogramming.
Chenxi Wang +13 more
wiley +1 more source
Transitioning to a digital TB case-based surveillance system: a mixed-methods study of the DHIS2 TB e-Tracker system. [PDF]
Darboe ML +11 more
europepmc +1 more source
Multimodal Cross‐Attentive Graph‐Based Framework for Predicting In Vivo Endocrine Disruptors
A multimodal cross‐attentive graph neural network integrates molecular graphs with androgen and estrogen adverse outcome pathway (AOP)–anchored in vitro assay signals to predict in vivo endocrine disruption. By fusing information on Tier‐1 AOP logits with chemical structures, the framework achieves high accuracy and provides assay‐traceable ...
Eder Soares de Almeida Santos +6 more
wiley +1 more source
Evaluating the concordance of pollen forecasting apps against automated pollen monitoring: A single-site experience. [PDF]
Gonzalez F, Ciaccio CE, Nyenhuis SM.
europepmc +1 more source

