Results 1 to 10 of about 207,257 (328)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing [PDF]

Human Genomics, 2023
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single ...
Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium   +11 more
doaj   +8 more sources

Exome sequencing and genetic testing for MODY. [PDF]

PLoS ONE, 2012
Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is ...
Stefan Johansson, Henrik Irgens, Kishan K Chudasama, Janne Molnes, Jan Aerts, Francisco S Roque, Inge Jonassen, Shawn Levy, Kari Lima, Per M Knappskog, Graeme I Bell, Anders Molven, Pål R Njølstad   +12 more
doaj   +7 more sources

Trio Exome Sequencing in VACTERL Association [PDF]

Kidney International Reports
Introduction: Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association.
Jasmina Ćomić, Erik Tilch, Korbinian M. Riedhammer, Melanie Brugger, Theresa Brunet, Katharina Eyring, Katharina Vill, Silke Redler, Velibor Tasic, Eberhard Schmiedeke, Frank-Mattias Schäfer, Nora Abazi-Emini, Ekkehart Jenetzky, Nicole Schwarzer, Anke Widenmann, Martin Lacher, Michael Zech, Sabine Grasshoff-Derr, Michaela Geßner, Carmen Kabs, Barbara Seitz, Andreas C. Heydweiller, Oliver Muensterer, Bärbel Lange-Sperandio, Udo Rolle, Johannes Schumacher, Matthias C. Braunisch, Riccardo Berutti, Heiko Reutter, Julia Hoefele   +29 more
doaj   +2 more sources

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Frontiers in Genetics, 2020
Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao   +17 more
doaj   +1 more source

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +12 more sources

Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. [PDF]

PLoS ONE, 2014
Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost,
Erwin Tantoso, Lai-Ping Wong, Bowen Li, Woei-Yuh Saw, Wenting Xu, Peter Little, Rick Twee-Hee Ong, Yik-Ying Teo   +7 more
doaj   +1 more source

The Application of Whole−Exome Sequencing in Patients With FUO

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis.
Wanru Guo, Xuewen Feng, Ming Hu, Yanwan Shangguan, Jiafeng Xia, Wenjuan Hu, Xiaomeng Li, Zunjing Zhang, Yunzhen Shi, Kaijin Xu   +9 more
doaj   +1 more source

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea, Hegde, Madhuri, Mao, Rong, Santani, Avni, Voelkerding, Karl V., Weck, Karen E.   +5 more
core   +3 more sources