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 ra...
Whole exome sequencingCost analysisMicro-costingOncologyGenomicsAlthough high-throughput sequencing is revolutionising medicine, data on the actual cost of whole exome sequencing (WES) applications are needed. We aimed at assessing the cost of WES at a French cancer institute in 2015 and 2018.Actual...
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
whole exome sequencingnext generation sequencingdiagnosischildrenclinical utilitypediatricsBackgroundThere are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior ...
Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
Whole exome sequencing (WES) is a targeted next generation sequencing (NGS) approach that uses modified oligonucleotide probes to “capture” and enrich the protein coding regions (exons) in a genome. Solely focusing on exons lowers the cost and time of sequencing as exons make up approximately...
Considering the clinical application, this study also analyzed the cost and time of whole-genome sequencing. On the BGI Genomics platform, the sequencing costs of whole genome sequencing are lower than that of combined chromosome microarray and exome sequencing. In addition, the analysis ti...
Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-based approach for diagnos
Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cf
The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more dir