Results 51 to 60 of about 2,882,377 (304)

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome [PDF]

, 2023
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Wei, Claire, Schindewolf, Marc, Bourque, Guillaume, Baumgartner, Iris, Mooser, Vincent, Taliun, Daniel, Paccard, Antoine, Perley, Danielle, Bourgey, Mathieu, Caron, Elizabeth, Asbah, Nimara Bader, Lefebvre, François, Döring, Yvonne, Eveleigh, Robert, Ravindran, Praveen Nadukkalam, Trajanoska, Katerina, St-Cry, Janick, Ragoussis, Jiannis, Bhérer, Claude, Lepage, Pierre   +19 more
core   +2 more sources

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 sequence analysis of Peters anomaly [PDF]

Human Genetics, 2014
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Eric, Weh, Linda M, Reis, Hannah C, Happ, Alex V, Levin, Patricia G, Wheeler, Karen L, David, Erin, Carney, Brad, Angle, Natalie, Hauser, Elena V, Semina   +9 more
openaire   +2 more sources

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

A stroke gene panel for whole-exome sequencing [PDF]

European Journal of Human Genetics, 2018
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations.
Andreea, Ilinca, Sofie, Samuelsson, Paul, Piccinelli, Maria, Soller, Ulf, Kristoffersson, Arne G, Lindgren   +5 more
openaire   +2 more sources

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

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

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

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia

Frontiers in Genetics, 2022
Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study ...
Hongguo Zhang, Wei Li, Yuting Jiang, Jia Li, Mucheng Chen, Ruixue Wang, Jing Zhao, Zhiyu Peng, Hui Huang, Ruizhi Liu   +9 more
doaj   +1 more source