To evaluate the coverage and accuracy of whole-exome sequencing (WES) across vendors.Blood samples from three trios underwent WES at three vendors. Relative performance of the three WES services was measured for breadth and depth of coverage. The false-negative rates (FNRs) were estimated using ...
Leveraging the ultrahigh-multiplex PCR approach of Ion AmpliSeq technology and the superior accuracy of the new Ion GeneStudio S5 Systems, the Ion AmpliSeq Exome RDY Kit allows for rapid, accurate sequencing of key exonic regions of the genome, going from ...
A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients. Whole exome sequencing (WES) offers unbiased analysis of the entire coding sequence, segmentation-based de
About Whole Genome Sequencing Gene By Gene's whole genome sequencing service (WGS) allows for a high degree of accuracy in identifying variants across the entire scope of the human genome. Using Next Generation Sequencing methodology, we provide sequence information that spans the complete genome, ...
Whole genome sequencing in addition to these advantages also offers the potential to characterize CNVs to unprecedented levels of accuracy, providing position and orientation information. In this review, we discuss the clinical potential of CNV identification in whole exome sequencing and whole genome ...
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
Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
sequencing (WGS) is becoming the preferred method for genetic analysis over alternative methods such as panel and exome sequencing. Firstly, WGS detects more variants not only in the large noncoding parts of the genome but also in exons due to a superior mapping quality [31,36,37]. Secondly...
Matilde Navarro1, Gabriel Capellá1, Ivo Gut2,3, Eduard Serra4, Joan Brunet5, Sergi Beltran2,3 & Conxi Lázaro1 Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing....
European Journal of Human Genetics Linkage analysis with whole-exome sequencing data S Gazal et al 584 of false-negative signals in Family A, that is, regions with a LOD score o − 2 while the REF LOD score is higher than the linkage threshold. We looked at several of these regions ...