Results 101 to 110 of about 2,882,218 (304)

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

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

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC Medical Genomics, 2012
Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G   +3 more
doaj   +1 more source

Training material for exome sequencing

, 2016
<p>Exome sequencing means that all protein-coding genes in a genome are sequenced.</p> <p>In Humans, there are ~180,000 exons that makes up 1% of the human genome which contain ~30 million base pairs.
Houwaart, Torsten (5270419), Batut, Bérénice, Batut, Bérénice (5270416), Grüning, Björn, Grüning, Björn (5259599), Erxleben, Anika, Houwaart, Torsten, Erxleben, Anika (5259602)   +7 more
core   +1 more source

Disabling COMPASS Promoter Licensing Shifts HDAC‐Inhibited Gastric Cancer Toward Sustained Transcriptional Suppression During Recovery

Advanced Science, EarlyView.
Combined inhibition of the WDR5 WIN pocket and HDAC activity converts SAHA‐induced hyperacetylation into a promoter state with reduced WDR5–COMPASS association and H3K4me3. MYC/E2F‐linked nascent transcription and biosynthetic recovery are suppressed, while apoptosis and senescence‐like features increase, resulting in sustained growth inhibition in ...
Jintian Song, Hui Yu, Jianping Jiang, Zhihui Jiang, Zhongshi Hong, Xu Zhang, Luchuan Chen, Shenghong Wei, Yi Wang   +8 more
wiley   +1 more source

Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape [PDF]

Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are crucial within the context of breast cancer (BC) research. They play a role in the detection of predisposed genes, risk stratification, and identification of rare single nucleotide ...
Adheesh Ghosh, Joecelyn Kirani Tan, Vatsala Khurana, Carola Maria Bigogno, Boussios, S., Ana Simmons, Akash Maniam, Olubukola Ayodele, Ishika Mahajan, Hetvi Ganatra, Aruni Ghose   +10 more
core  

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

Demographics of Amish Exome Sequencing Samples.

, 2015
Percent female, age of exam and onset averages and standard deviations were calculated for the 162 samples which passed QC for whole-exome sequencing.Demographics of Amish Exome Sequencing Samples.
Anna C. Cummings (409687), Jonathan L. Haines (160079), William K. Scott (178243), Renee Laux (691156), Margaret A. Pericak-Vance (160082), Denise Fuzzell (691157), Lori Reinhart-Mercer (691159), Laura N. D’Aoust (409690), Laura Caywood (691158)   +8 more
core   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source