Results 101 to 110 of about 237,110 (353)

Exome Sequencing in Clinical Hepatology

Hepatology, 2019
The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt‐wasting disease. Over the past decade, numerous studies have shown the utility
Sílvia, Vilarinho, Pramod K, Mistry
openaire   +3 more sources

Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting R‐Loop Accumulation and DNA Repair Deficiencies

Advanced Science, EarlyView.
ARID1A, a SWI/SNF complex component, is frequently mutated in colorectal cancer (CRC). CRC with ARID1A/TP53 concurrent mutations shows marked sensitivity to WEE1 inhibition. ARID1A loss induces R‐loop‐mediated replication stress, impairs ATF3 transcription, and amplifies WEE1i‐induced DNA damage, suggesting a promising therapeutic vulnerability ...
Chi Zhang, Yanjing Zhu, Luoyan Ai, Jingyuan Wang, Shan Yu, Yichen Wang, Xiaojing Xu, Mengling Liu, Yiyi Yu, Mengxuan Zhu, Yutong Liu, Zhenghang Xu, Haojie Zhou, Huishan Li, Qihong Huang, Qing Liu, Ke Peng, Tianshu Liu   +17 more
wiley   +1 more source

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data [PDF]

, 2021
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke G. Langendonk, Martina Wilke, Walter de Valk, Henk J. Blom, Marcel J.T. Reinders, George J. G. Ruijter   +9 more
openalex   +1 more source

Exome sequencing: a transformative technology [PDF]

The Lancet Neurology, 2011
Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
openaire   +2 more sources

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. Schenkel, John V. Heymach, Chao Cheng, Jia Wu, Jianjun Zhang   +34 more
wiley   +1 more source

Workflow for the Implementation of Precision Genomics in Healthcare

Frontiers in Genetics, 2020
To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data.
Sanja Mehandziska, Aleksandra Stajkovska, Margarita Stavrevska, Kristina Jakovleva, Marija Janevska, Rodney Rosalia, Ivan Kungulovski, Zan Mitrev, Goran Kungulovski   +8 more
doaj   +1 more source

Exome Sequencing Deciphers Rare Diseases [PDF]

Cell, 2011
Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
openaire   +2 more sources

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

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders

Diagnostics
Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive.
Mauricio Arcos-Burgos, Mauricio Arcos-Holzinger, Claudio Mastronardi, Mario A. Isaza-Ruget, Jorge I. Vélez, Donald P. Lewis, Hardip Patel, Brett A. Lidbury   +7 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