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...
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...
Studies of rare genetic variation have identified molecular pathways conferring risk for developmental neuropsychiatric disorders. To date, no published whole-exome sequencing studies have been reported in obsessive-compulsive disorder (OCD). We sequence
Mutation calling was performed in parallel with a team of geneticists/cell biologists, who had knowledge of the clinical phenotypes and pedigree structure, as well as experience with homozygosity mapping and exome evaluation. As exon capture with subsequent massively parallel sequencing yields too many...
Tumor and plasma samples taken at diagnosis were pair analyzed using whole exome sequencing (WES) in patients belonging to the discovery cohort alone. The variant allele frequency (VAF) of KRAS mutations was measured by ddPCR in plasma at baseline and response assessment in all patients. Plasma ...
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...
In the last few years, a huge amount of genetic data have been collected by whole-exome sequencing (WES) and whole-genome sequencing (WGS) studies2,3,4,5,6,7,8,9,10, performed on different general and isolated populations worldwide, including isolates from Northern Italy11. These studies...