Results 161 to 170 of about 1,121,623 (279)

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
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, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Age at natural menopause, reproductive lifespan and Alzheimer's disease in females: is APOE ε4 the missing link? [PDF]

Front Genet
Bruno F, Spadafora P, Abondio P, Qualtieri A, Paparazzo E, Aceto MA, Veltri I, De Benedittis S, Greco BM, Cerantonio A, Citrigno L, Di Palma G, Gallo O, Passarino G, Montesanto A, Cavalcanti F.   +15 more
europepmc   +1 more source

Combination Immunotherapy as a Promising Strategy to Overcome Immunotherapy Resistance: From Emergence to Next‐Generation Approaches

Advanced Science, EarlyView.
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, Sudhir Kumar Rai, Li Ma, Lauren Higa, Vedbar Khadka, Hua Yang, Youping Deng   +6 more
wiley   +1 more source

Reduced Maintenance DNA Methylation Thresholds Enable Sensitive Reporter Assays for UHRF1 and DNMT1 Inhibition

Advanced Science, EarlyView.
The authors engineer colorectal cancer cells with reduced redundancy of UHRF1 and DNMT1, key DNA methylation maintenance factors, lowering the maintenance threshold and sensitizing cells to inhibition. They develop reporter assays driven by endogenous tumor‐suppressor gene promoters with enhanced sensitivity and dynamic range to demethylating drugs ...
Cuicui Xia, Ying Cui, Jiongliang Wang, Wenjing Bai, Danyang Wang, Yao Chen, Huahui Guo, Liangyi Zong, Bing Qin, Xintong Cai, Jie Wang, Jing Huang, Scott B. Rothbart, Zufeng Guo, Stephen B. Baylin, Xiangqian Kong   +15 more
wiley   +1 more source

Pharmacogenomic diversity among Arab populations: A systematic review. [PDF]

iScience
Al-Mahayri ZN, Alqasrawi MN, Khasawneh LQ, Altoum SM, Albawa'neh AS, Dabaghie L, Ali BR.   +6 more
europepmc   +1 more source

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

Advanced Science, EarlyView.
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, Yadong Liu, Miao Cui, Runtian Gao, Weimin Guo, Guohua Wang, Yadong Wang, Tao Jiang   +7 more
wiley   +1 more source

The precision strategy of human genome correction via a set of circular donor DNA and its cleaver. [PDF]

Front Genome Ed
Kusano K, Takizawa K, Kawaguchi J, Hara I, Mori T.   +4 more
europepmc   +1 more source

Direct Extracellular Matrix Modulation Attenuates Intestinal Fibrosis via a Fibronectin‐Targeted Approach

Advanced Science, EarlyView.
Fibronectin regulates the extracellular matrix (ECM)–myofibroblast cycle through three key steps: (1) its secretion and assembly by myofibroblasts (inhibited by pUR4); (2) collagen deposition along its scaffold (inhibited by R1R2); and (3) integrin α5β1‐mediated mechanotransduction (inhibited by ATN161).
Wenlong Ma, Siyu Yang, Tengkai Wang, Di Zhang, Hewei Wu, Shichen Fu, Xiaohan Wan, Lixiang Li, Xiuli Zuo, Yanqing Li, Jiaoyang Lu   +10 more
wiley   +1 more source

HOOKSNIP: A BROWSER TOOL FOR DESIGNING ALLELE-SPECIFIC PCR PRIMERS IN HOOKWORM. [PDF]

J Parasitol
Jackson CA, Hawdon JM, O'Halloran DM.
europepmc   +1 more source

N4‐acetylcytidine in LncRNA Gm26917 Promotes Translation in Female Germline Stem Cells by Recruiting Ribosomal Protein mRNA via EEF1A1

Advanced Science, EarlyView.
This work establishes that ac4C modification on lncRNA Gm26917 governs its spatial interactions with Rpl10 mRNA, and RBP EEF1A1 mediates the interaction between Gm26917 and Rpl10. It elucidates a novel ac4C‐Gm26917‐EEF1A1‐Rpl10 axis in FGSC maintenance both in vitro and in vivo, and provides a potential molecular target for modulating germ cell ...
Xinyue Li, Xiaopeng Hu, Ji Wu
wiley   +1 more source