Results 91 to 100 of about 178,485 (305)

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD

Hepatology Communications, 2018
Nonalcoholic fatty liver disease (NAFLD) is a heterogeneous disease with highly variable outcomes. Patients with simple steatosis typically experience a benign course, whereas those with more advanced liver injury, nonalcoholic steatohepatitis (NASH ...
Sarah E. Kleinstein, Matthew Rein, Manal F. Abdelmalek, Cynthia D. Guy, David B. Goldstein, Anna Mae Diehl, Cynthia A. Moylan   +6 more
doaj   +1 more source

New insights into the performance of human whole-exome capture platforms [PDF]

, 2017
Whole exome sequencing (WES) is increasingly used in research and diagnostics. WES users expect coverage of the entire coding region of known genes as well as sufficient read depth for the covered regions.
Bruggmann, Rémy, Carrel, Thierry, Keller, Irene, Ludin, Katja, Matyas, Gabor, Meienberg, Janine, Okoniewski, Michal, Patrignani, Andrea, Röthlisberger, Benno, Schlapbach, Ralph, Steinmann, Beat, Xu, Zhenyu, Zerjavic, Katja   +12 more
core   +1 more source

Spatial Profiling Reveals Distinct Molecular and Immune Evolution of Mouse Lung Adenocarcinoma Precancers with or Without Carcinogen Exposure

Advanced Science, EarlyView.
Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu, Muhammad Aminu, Pingjun Chen, Jian‐Rong Li, Chuanpeng Dong, Chenyang Li, Yanhua Tian, Shao‐Wei Lu, Hong Chen, Chenxi Ma, Xin Hu, Jie Ye, Andrew Y. Liu, Beibei Huang, Frank R. Rojas, Parra Cuentas. Edwin Roger, Ou Shi, Monique B. Nilsson, Alissa Poteete, Khaja B. Khan, Wei Lu, Luisa M. Solis Soto, Junya Fujimoto, Cara Haymaker, Ignacio I. Wistuba, Zhubo Wei, Linghua Wang, Don L. Gibbons, Ken Chen, Alexandre Reuben, Jason M. Schenke, John V. Heymach, Chao Cheng, Jia Wu, Jianjun Zhang   +34 more
wiley   +1 more source

Proteogenomic Characterization Reveals Subtype‐Specific Therapeutic Potential for HER2‐Low Breast Cancer

Advanced Science, EarlyView.
Multiomic profiling of HER2‐low breast cancer identifies three proteomic subtypes with distinct therapeutic strategies: endocrine, antiangiogenic, and anti‐HER2 therapies. Genomic and lactate modification landscapes are detailed, providing insights for precise management.
Shouping Xu, Keda Yu, Lei Liu, Qin Wang, Xiaohui Wu, Yihai Chen, Guozheng Li, Xin Zhang, Bo Wei, Zitong Fu, Abiyasi Nanding, Zuxianglan Zhao, Lingbing Yang, Xingda Zhang, Jianyu Wang, Wantong Sun, Yi Hao, Zhongyi Cheng, Xiaojiang Cui, Hao Wu, Da Pang   +20 more
wiley   +1 more source

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

Iranian Journal of Public Health, 2016
Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI, Manouchehr KEYHANI, Mohammad Taghi AKBARI   +2 more
doaj  

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

His‐MMDM: Multi‐Domain and Multi‐Omics Translation of Histopathological Images with Diffusion Models

Advanced Science, EarlyView.
His‐MMDM is a diffusion model‐based framework for scalable multi‐domain and multi‐omics translation of histopathological images, enabling tasks from virtual staining, cross‐tumor knowledge transfer, and omics‐guided image editing. ABSTRACT Generative AI (GenAI) has advanced computational pathology through various image translation models.
Zhongxiao Li, Tianqi Su, Bin Zhang, Wenkai Han, Sibin Zhang, Guiyin Sun, Yuwei Cong, Xin Chen, Jiping Qi, Yujie Wang, Shiguang Zhao, Hongxue Meng, Peng Liang, Xin Gao   +13 more
wiley   +1 more source

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda   +4 more
doaj   +1 more source