全外显子测序(Whole Exome Sequencing, WES):通过目标区域获取技术对外显子区域的DNA进行测序,可获取基因编码区域的核酸突变信息,从而研究其与疾病和其它生物性状相关性。相对于全基因组测序,全外显子可显著降低成本。 技术流程 技术参数 测序平台与方式:HiSeq, PE150捕获平台:Agilent SureSelect测序深度:100X,200X...
Exome sequencing is a fast and affordable alternative to using whole genome sequencing for your research, allowing you to identify somatic and germline genetic variants within coding regions of genes without the additional expense and data analysis challenges associated with whole genome s...
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 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 re...
Figure 1. Next generation sequencing approaches.NGS can be applied for different uses, including (A) whole exome sequencing (WES), where sequencing reads are focused on protein-coding regions of the genome; and (B) whole genome sequencing, where both coding and non-coding DNA regions are anal...
Although 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 costs of WES application in oncology research were ...
Discover Almac's high-quality Whole Exome Sequencing (WES) service, built on Agilent’s chemistry with sequencing performed on the Illumina NovaSeq or NextSeq technology.
I have been using Quick Biology for WGS sequencing of low-input, degraded DNA samples (100-200 year old herbarium specimens) for two and a half years now. Every single sample I have submitted has generated publishable results. Kudos to their lab team, they do amazing work. Hartnell College...
Trio whole‐exome sequencingImportance: Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy (LVNC). Thus far, only five families with LVNC have been reported...
About Whole Exome Sequencing The exome, comprising about 30 million base pairs and representing 22,000 genes, makes up roughly 2% of the genome. It is estimated that approximately 85% of disease-causing variants can be found within these protein-coding regions. WES therefore allows for a ...