This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
whole-exome sequencingwhole-genome sequencingMany biomarkers indicate prognosis in chronic lymphocytic leukemia; such as fluorescencein situhybridization testing: 17p or 11q deletions have a worse prognosis than trisomy 12, 13q deletion or normal result, or the mutational status of the immunoglobulin ...
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...
Learn about whole exome sequencing (WES), a targeted next generation sequencing method that identifies all the protein-coding genes (exons) in the genome.
et al. Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet 45, 1459–1463 (2013). https://doi.org/10.1038/ng.2798 Download citation Received15 January 2013 Accepted16 September 2013 ...
Van den Akker EB, Deelen J, Slagboom PE, Beekman M (2015) Exome and whole genome sequencing in aging and longevity. Adv Exp Med Biol 847: 127-139.van den Akker EB, Deelen J, Slagboom PE, Beekman M (2015) Exome and whole genome sequencing in aging and longevity. Adv Exp Med ...
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic r...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
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 review, we discuss the clinical potential of CNV identification in whole exome sequencing and whole genome sequencing data and the implications this has on diagnostic laboratories. 展开 关键词: clinical sequencing copy number variation next-generation sequencing structural variation ...