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...
The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic researchers trying to identify the genes implicated in over 6,800 rare diseases [2], exome sequencing enables r...
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...
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
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, ...
Exome sequencing and other capture methods permit the high-coverage sequencing of a small portion of the genome. This approach represents a trade off between depth of coverage vs. breadth of the genome that is interrogated, and has the potential to revolutionize genomic medicine [8,9]. In addi...
Since WES is targeted sequencing, it results in a more manageable data output (~5 Gb) for genotyping applications than whole genome sequencing (~90 Gb). WES provides a lower cost with faster analysis time than WGS.xGen Exome Research Panel v2 white paper Learn how our large-scale ...
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 (...
The debate regarding the relative merits of whole genome sequencing (WGS) versus exome sequencing (ES) centers around comparative cost, average depth of coverage for each interrogated base, and their relative efficiency in the identification of medically actionable variants from the myriad of variants...