Exome sequencingBayesian cost-effectiveness analysisPublic HealthGenetic diseases are medical conditions caused by sequence or structural changes in an individual鈥檚 genome. Whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly used for diagnosing suspected genetic conditions in ...
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...
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 (...
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
Whole-genome sequencing has the potential to accurately differentiate between stable and progressive precursor conditions to multiple myeloma in low disease burden clinical states and the use of this technology in the clinic may result in a significant s
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 ...
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 ...
and the patients were from multiple countries with different epidemiological and ancestral backgrounds. Furthermore, most of the studies used targeted sequencing, and whole-exome sequencing (WES) or whole-genome sequencing was only performed with low coverage. More importantly, exhaustive follow-up was...
Variants in the UK10K-GS dataset were generated by whole-exome sequencing (WES) as part of the UK10K project that used the same targeted regions, sequencing protocols and downstream bioinformatics pipeline as our study. The generated WES data have been submitted to the European Genome- phenome ...
Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies. Meth...