Results 41 to 50 of about 2,882,218 (304)

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng   +7 more
doaj   +1 more source

Whole exome sequencing identifies centrosomal component gene mutations that increase human aneuploid conception risk, supplemental data

, 2019
This VCF file contains 162,365 SNVs identified across 160 individuals by whole exome sequencing that were used in the study. Allele counts (AC), total allele number (AN), and allele frequencies (AF) for either Low Aneuploidy Rate group (LRG) or High ...

core   +1 more source

Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He, Mei Meng, Xianchao Zhou, Rui Gao, Hui Wang   +4 more
doaj   +1 more source

Whole exome sequencing coverage.

, 2015
Whole exome sequencing coverage.
Jeffery M. Klco (131579), Jacqueline L. Mudd (709845), Charles Lu (33589), Robert Fulton (252141), Michelle O'Laughlin (709846), Catrina Fronick (252126), Timothy J. Ley (131582), Daniel R. George (709844), Nichole M. Helton (709843), Richard K. Wilson (13401), Cheng Li (6339), Christopher A. Miller (231205)   +11 more
core   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

Genotype and Phenotype Correlation in Patients with Comorbid Epilepsy and Intellectual Disability

Graduate Medical Education Research Journal, 2019
Mentor: Jill Clayton-Smith Program: Neurology Epilepsy and intellectual disability comorbidity is a common condition with great medical and psychological impact on a patient’s life and their family members.
Mohamed Taha, Jill Clayton-Smith
doaj   +1 more source

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing. [PDF]

, 2020
Background Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints.
Zamani, Mina, Seifi, Tahereh, Mazaheri, Neda, Sedighzadeh, Sahar, Galehdari, Hamid, Negahdari, Samira, Saberi, Alihossein, Shariati, Gholamreza, Sedaghat, Alireza, Hamid, Mohammad, Radpour, Ramin, Zeighami, Jawaher, Keikhaei, Bijan, Keikhaei B, Negahdari S, Hamid M, Sedaghat A, Seifi T, Radpour R, Galehdari H, Sedighzadeh S, Mazaheri N, Zamani M, Saberi A, Shariati G, Zeighami J   +25 more
core   +2 more sources

Whole-exome sequencing in familial atrial fibrillation [PDF]

European Heart Journal, 2014
Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF.WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare
Peter, Weeke, Raafia, Muhammad, Jessica T, Delaney, Christian, Shaffer, Jonathan D, Mosley, Marcia, Blair, Laura, Short, Tanya, Stubblefield, Dan M, Roden, Dawood, Darbar   +9 more
openaire   +2 more sources

Whole-exome sequencing of rectal neuroendocrine tumors

Endocrine-Related Cancer, 2023
The genetic characteristics of rectal neuroendocrine tumors (R-NETs) were poorly understood. Depicting the genetic characteristics may provide a biological basis for prognosis prediction and novel treatment development. Tissues of 18 R-NET patients were analyzed using whole-exome sequencing.
Yuanliang Li, Yiying Guo, Zixuan Cheng, Chao Tian, Yingying Chen, Ruao Chen, Fuhuan Yu, Yanfen Shi, Fei Su, Shuhua Zhao, Zhizheng Wang, Jie Luo, Huangying Tan   +12 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source