Results 101 to 110 of about 178,713 (349)

The challenge of consent in clinical genome-wide testing [PDF]

, 2016
Genome-wide testing methods include array comparative genomic hybridisation (aCGH), multiple gene panels, whole exome sequencing (WE) and whole genome sequencing (WGS).
Burke, Katherine, Clarke, Angus
core   +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

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

BMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong   +5 more
doaj   +1 more source

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

C6orf10 low-frequency and rare variants in italian multiple sclerosis patients [PDF]

, 2019
In light of the complex nature of multiple sclerosis (MS) and the recently estimated contribution of low-frequency variants into disease, decoding its genetic risk components requires novel variant prioritization strategies.
Balestra, Dario, Benazzo, Andrea, Bernardi, Francesco, Bovolenta, Matteo, Bozzini, Nicolò, Gemmati, Donato, Guidi, Irene, Laino, Lorenza Anna, Lunghi, Barbara, Marchetti, Giovanna, Menegatti, Erica, Meneghetti, Silvia, Salvi, Fabrizio, Scapoli, Chiara, Straudi, Sofia, Zamboni, Paolo, Ziliotto, Nicole   +16 more
core   +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

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

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

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