Learn about whole exome sequencing (WES), a targeted next generation sequencing method that identifies all the protein-coding genes (exons) in the genome.
Whole exome sequencing (WES) is an emerging technique in prenatal diagnosis. In this retrospective study, we examined diagnostic utility and limitations of WES in prenatal cases with structural birth defects. DNA from 20 trios (fetal and parental), with normal karyotype and microarray findings, ...
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 second technique is using a positional encoding which enables the model to learn the relative locations of the read depth values with respect to each other and absolute position in the entire exome sequence and extract the position meaning that contributes to calling CNVs. In this work, for...
Figure 1. Bioinformatics workflow of whole genome sequencing. Raw read QC and preprocessing The relevance of quality control lies in its application to next-generation sequencing (NGS), primarily represented by Illumina, which principally employs the technique of sequencing by synthesis. The fabrication...
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
In this study, we performed a trio-analysis of whole-exome sequencing (WES) and in silico investigation for an Iranian patient with hypochondroplasia and her parents. The DNA samples were extracted from an 8 years old female patient and her parents. WES was conducted for these samples and ...
Whole exome libraries were pre- pared in accordance with Nextera Rapid Capture Exome Enrichment protocol (Illumina). Briefly 100 ng of gen- omic DNA was tagmented (tagged and fragmented) by the Nextera transposome technique to an average library size of 290 bp (190–230 bp for the FFPE...
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...
a faster pace.15 Using this technology it is possible to analyze several specific genes simultaneously, comprising a disease panel, or at the limit it may include all the exonic regions of the human genome—whole-exome sequencing (WES) or even the entire genome (individual genome sequencing)....