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...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
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...
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 ...
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 focus...
Whole exome sequencing (WES) is a targeted next-generation sequencing method that identifies all protein-coding genes (exons) in the genome. These regions contain most large genetic variants and single nucleotide polymorphisms (SNPs) associated with human disease. By enriching for exons, you can fo...
Whole exome sequencingSequencing, Next Generation
It is of note that we have previously used WES to search for low-frequency and rare variants for DKD in individuals with type 1 diabetes [11, 12]. A recent exome sequencing of >170,000 individuals identified rare coding variants in 35 genes for total cholesterol, LDLC, HDLC, triglycerides...
xGen™ NGS for whole exome sequencing includes offerings for both routine and difficult samples—designed to minimize efforts while maintaining key data metrics and positioning your research for limitless potential. xGen™ NGS—made limitless.
The whole-exome sequencing produced approximately 73,000 overall pass-on-target variants for all seven samples (Supplementary Table S1). Based on the filtering strategy, the variant statistics and a summary of probable disease-causing have been presented in Supplementary Tables S2–S5. Figure 2B il...