This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
Key Points: Question: Is whole-genome sequencing (WGS) more cost-effective than whole-exome sequencing for children with suspected genetic disorders? Findings: The results of this economic evaluation of a cohort of 870 pediatric patients suggest that adopting W...
Leveraging the ultrahigh-multiplex PCR approach ofIon AmpliSeq technologyand the superior accuracy of the newIon GeneStudio S5 Systems, theIon AmpliSeq Exome RDY Kitallows for rapid, accurate sequencing of key exonic regions of the genome, going from DNA to ...
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...
ARTICLE Received 18 Feb 2016 | Accepted 4 Nov 2016 | Published 18 Jan 2017 DOI: 10.1038/ncomms14121 OPEN Exome and genome sequencing of nasopharynx cancer identifies NF-kB pathway activating mutations Yvonne Y. Li1,*, Grace T.Y. Chung2,*, Vivian W.Y. Lui3,4,*, Ka-Fai To2, ...
Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of
The sheer volume of data generated from whole exome sequencing and whole genome sequencing presents a challenge for many researchers faced with the prospect of assembling and analyzing it. Whether you are working with whole genome, whole exome, or other targeted sequencing data, the resulting ...
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 (...
Whole exome sequencing (WES) investigates genetic variations of underlying diseases such as cancers, Mendelian diseases, and complex human disorders. This method targets protein-coding regions responsible for disease-related variants, providing a more cost-effective approach than whole genome sequencing (...
Exome sequencing is targeted DNA sequencing where the exonic regions are captured and sequenced. Since the size of the human exome is only ∼1% of the genome, exome sequencing is a much more cost-effective way to study variations in coding regions, compared to whole-genome sequencing. There...