Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
Whole- exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Rev Mol Diagn 2015; 15: 749-60.Tetreault, M., Bareke, E., Nadaf, J., Alirezaie, N. & Majewski, J. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities...
Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
Whole exome sequencing(WES) is atargeted next generation sequencing(NGS) approach that uses modified oligonucleotide probes to “capture” and enrich the protein coding regions (exons) in a genome. Solely focusing on exons lowers the cost and time of sequencing as exons make up approximately 1% ...
EXPLORE EXOME SEQUENCING USES References Williams HJ, Hurst JR, et al. (2016)The use of whole-exome sequencing to disentangle complex phenotypesEur J Hum Genet 24(2):298–301. Bamshad MJ, Ng SB, et al. (2011)Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Gen...
whole‐exome sequencingBackgroundClinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, ...
Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveyed to those deciding about WES. Currently, there...
Exome Sequencing—A Potential Tool to Uncover Mutations With Strong Effect Whole-exome sequencing (WES) is a state-of-the-art method that captures all genetic variants within the protein-coding region of the genome; this also includes exon-intron boundaries potentially harboring splice site mutation...
Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by ...
683 regions of the cat genome. Whole exome sequencing was conducted on 41 cats with known and unknown genetic diseases and traits, of which ten cats had matching whole genome sequence (WGS) data available, used to validate WES performance. At 80 × mean exome depth of coverage, 96.4%...