whole genome sequencingtargeted panel sequencingnext generation sequencingsequencing anniversarylaboratory hematologyThe first decade of capture‐based targeted whole exome sequencing (WES) has now passed, while
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was...
Zhiming Cai and colleagues report whole-genome and whole-exome sequencing of 99 paired tumor-normal samples of transitional cell carcinoma of the bladder. They find that 32% of tumors harbor alterations in genes involved in sister chromatid cohesion, inc
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 (...
In this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were...
Whole genome sequencing (WGS) is emerging as a first-tier diagnostic test for rare genetic diseases1,2. Compared to whole exome sequencing (WES) and other molecular diagnostic tests (e.g. sequencing panels, microarrays), WGS is more comprehensive for two reasons: (i) it allows detection of...
In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers. Conclusions By pathway analysis, all inherited germline genetic events were ...
2.4. Whole exome sequencing (WES) for SCID infants Whole exome sequencing (WES) refers to a genome analysis method that uses sequence capture or targeting technology to enrich the DNA of the whole genome exon region and then conduct high-throughput sequencing. WES is mainly used to identify ...
1 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 ...
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