Results 161 to 170 of about 3,153,117 (306)

CausalCellInfer: Prioritizing Cell‐Type‐Specific Disease Associations From Genetically Predicted Transcriptomes in Biobank Cohorts

Advanced Science, EarlyView.
Bulk and genotype‐imputed transcriptomes obscure the cellular drivers of complex disease. CausalCellInfer resolves them by integrating invariant marker selection, deep learning deconvolution, and regularized matrix completion. Applied to ∼500 000 UK Biobank participants across 29 traits, it uncovers hallmark cell‐type proportion shifts, including ...
Liangying Yin, Yujia Shi, Ruoyu Zhang, Yong Xiang, Jinghong Qiu, Pak‐Chung Sham, Hon‐Cheong So   +6 more
wiley   +1 more source

Hypervariable polymorphism in the APOC3 gene [PDF]

Nucleic Acids Research, 1991
S, Bhattacharya, T M, Wilson, A P, Wojciechowski, C P, Volpe, J, Scott   +4 more
openaire   +2 more sources

A Living Multi‐Omics PDX Biobank of High‐Risk Sarcomas Reveals ecDNA‐Driven Oncogene Amplification in Osteosarcoma and Enables Preclinical Precision Oncology

Advanced Science, EarlyView.
A living multi‐omics sarcoma PDX biobank is enriched for high‐risk disease and preserves key patient tumor features at histopathological and molecular levels. Integrated profiling reveals ecDNA‐driven oncogene amplification in osteosarcoma and preferential retention of ecDNA during PDX evolution.
Weisong Zhao, Zhiwei Cheng, Kai Tian, Mengxiong Sun, Zhuoying Wang, Ming Jiao, Jens Luebeck, Kaiyuan Zhu, Xiao Zhang, Dongqing Zuo, Hongsheng Wang, Chongren Wang, Jiakang Shen, Xiaojun Ma, Gangyang Wang, Zongyi Wang, Jing Han, Kaiyuan Liu, Haoran Mu, Weiqi Ma, Yongyong Ren, Shibing Guo, Huangxin Tu, Lingfeng Yu, Yining Tao, Yu Lv, Hui Lu, Owen S. Chapman, Rishaan Kenkre, Lukas Chavez, Zhengdong Cai, Yuqin Yang, Wei Sun, Yafei Jiang, Yingqi Hua   +34 more
wiley   +1 more source

An Mspl polymorphism for the HOX2F gene [PDF]

Nucleic Acids Research, 1991
T, Ogura, C M, Castiglione, A J, Pakstis, K K, Kidd   +3 more
openaire   +2 more sources

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

Advanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou, Keqing Wang, Junhong Chen, Haoyu Wang, Xinjiang Tan, Xuanlin Huang, Zhiyin Lin, Xun Xu, Xin Jin, Shaoqiao Zhang, Liang Xiao, Yuanqiang Zou, Tao Zhang, Xiaomin Liu   +13 more
wiley   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai, Bei Wang, Mingmin Shi, Dianwei Liu, Huimin Ji, Ting Wang, Ziwei Wang, Kaiming Guo, Xinyang Dou, Chunyan Qian, Fang Zhang, Yongming Wang, Hongju Mao, Rui Wang   +13 more
wiley   +1 more source

AKAP1 Protects Retinal Ganglion Cells and Preserves Vision by Improving Mitochondrial and Synaptic Health in Glaucomatous Neurodegeneration

Advanced Science, EarlyView.
Intravitreal AAV2‐mediated AKAP1 restoration enhances mitochondrial fusion and biogenesis, improves bioenergetic capacity, and preserves mitochondrial integrity in glaucomatous RGCs. AKAP1 stabilizes presynaptic structure, maintaining synaptic protein expression, and limiting complement‐associated neuroinflammation.
Tonking Bastola, Keun‐Young Kim, Ziyao Shen, Guy A. Perkins, Muna Poudel, Yoonjin Lim, Hyejeong Choi, Soo‐Ho Choi, Mark H. Ellisman, Robert N. Weinreb, Won‐Kyu Ju   +10 more
wiley   +1 more source

An Explainable Multimodal Deep‐Learning Model Using Histopathological Image and Clinical Information for Prognosis Prediction in Colorectal Cancer: A Multi‐Center Cohort Study

Advanced Science, EarlyView.
This study develops a multimodal deep‐learning model that integrates clinical variables and histopathological images to predict survival outcomes in colorectal cancer. The multimodal model effectively stratifies patients into low‐ and high‐risk groups, demonstrating superior accuracy and generalizability across multiple independent cohorts.
Zhihan Jiang, Xiangchao Shi, Chenghan Su, Yao Ma, Rui Li, Menglei Chen, Jianxin Cui, Nicholas Hawkins, Robyn Ward, Xiangzhi Bai, Jitendra Jonnagaddala, Wei Fu, Xin Zhou   +12 more
wiley   +1 more source

Gene Polymorphisms Associated with Treatment Response of Asthma in Chinese Children. [PDF]

J Asthma Allergy
Zhu L, Jiang X, Li C, Zhu T, Chong L, Li C, Huang X, Zhang H.   +7 more
europepmc   +1 more source

Gapless Complete Genome and Multi‐Omics Illuminate Immune Adaptation and Host‐Virus Interactions in a Coronavirus Reservoir

Advanced Science, EarlyView.
We present a complete T2T genome assembly for a key bat reservoir. Integrating population genomics, comparative genomics, transcriptomics, single‐cell omics, and functional assays, we resolve previously inaccessible genomic regions and identify evolutionary signatures associated with immune adaptation.
Yuting Wang, Sheng Zhang, Linxia Ouyang, Xin Du, Xin Huang, Zhilin Wang, Huixian Xie, Jiale Tang, Liyi Lou, Wenqing Ling, Weihao Wang, Jiang Zhou, Zhen Liu, Yibo Hu, Fuwen Wei, Guangping Huang   +15 more
wiley   +1 more source