Results 1 to 10 of about 121,421 (124)

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   +1 more source

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

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   +1 more source

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

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

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

A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production

Cell Reports, 2013
Alzheimer’s disease (AD) is characterized by cerebral deposition of β-amyloid (Aβ) peptides, which are generated from amyloid precursor protein (APP) by β- and γ-secretases. APP and the secretases are membrane associated, but whether membrane trafficking
Vinod Udayar, Virginie Buggia-Prévot, Rita L. Guerreiro, Gabriele Siegel, Naresh Rambabu, Amanda L. Soohoo, Moorthi Ponnusamy, Barbara Siegenthaler, Jitin Bali, AESG, Mikael Simons, Jonas Ries, Manojkumar A. Puthenveedu, John Hardy, Gopal Thinakaran, Lawrence Rajendran   +15 more
doaj   +1 more source

The Role and Challenges of Exome Sequencing in Studies of Human Diseases

Frontiers in Genetics, 2013
Recent advances in next-generation sequencing (NGS) technologies have transformed the genetics study of human diseases; this is an era of unprecedented productivity.
Zuoheng eWang, Xiangtao eLiu, Xiangtao eLiu, Bao-Zhu eYang, Joel eGelernter, Joel eGelernter   +5 more
doaj   +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

Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing

Neoplasia: An International Journal for Oncology Research, 2011
The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan   +9 more
doaj   +1 more source

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data

npj Genomic Medicine, 2022
Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive ...
Javier Lanillos, Marta Carcajona, Paolo Maietta, Sara Alvarez, Cristina Rodriguez-Antona   +4 more
doaj   +1 more source