S. (2011). "Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders." Clin Genet 79(2): 132-133.Sanders, S. (2011) Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders. Clin. Genet., 79, 132 -133....
Learn about whole exome sequencing (WES), a targeted next generation sequencing method that identifies all the protein-coding genes (exons) in the genome.
Bilguvar, K. et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.Nature467, 207–210 (2010). ArticleADSCASGoogle Scholar Sanders, S. S. Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders.Clin. Genet.79, 13...
We applied whole exome sequencing technique to analyze patient IV:2 in the Chinese family RP-2236, patient II:1 in the Indian family RP-IC-90 and 100 sporadic Indian RP patients and identified a large number of variants in each sample, including SNPs and Indels. The next-generation sequenci...
The sequencing technique hasbeen described previously [11]. In brief, 38 Mb of coding regionfor each cell line was captured using the Agilent SureSelect AllExon v1.0 Kit (Agilent) from sheared DNA libraries weregenerated. The size-selected samples were sequenced as paired-end 80-mer reads on...
Whole-exome sequencing (WES), a ground-breaking technology, has emerged as a linchpin in neurology and neurosurgery, offering a comprehensive elucidation of the genetic landscape of various neurological disorders. This transformative methodology concentr
Exome sequencing is a technique that targets the expressed genes, protein-coding regions of the genome, in order to detect exonic variants and discover genetic influences on disease. Exome sequencing is a cost-effective and practical alternative to whole-genome sequencing due to its high yield of...
Flowchart of WES (Whole Exome Sequencing) analysis: T1, T2, T3 design the three nuclear families respectively, p (paternal) for the father, m (maternal) for the maternal and c for the affected child. The number in dark boxes indicate the total number of variants identified respectively in ...
Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD. Using Ion ProtonTM system, we ...
Whole-exome sequencing (WES) is a cost-effective and powerful tool for the analysis of complex and rare genetic diseases10. WES technique allows a base-pair comparison of exomes and consequently the examination of rare genetic variants, which may play a role in suicide. Alterations in copy num...