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
Sequencing up to 12 exomes in one day The Ion GeneStudio Prime System, Ion Chef instruments, and Ion 550 Chip enable up to 12 exomes per day, 48 per week.* *Assuming an eight-hour work day and five-day work week. Requires two Ion Chef instruments. ...
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...
Whole exome sequencing works by using capture probes (synthesized oligonucleotides) or baits designed to specifically hybridize the exons (coding portions of genes), rather than enriching all the genomic DNA. Library preparation comes next, wherein sequencing adapters are added to the enriched protein...
Whole exome sequencing (WES) is the approach used to sequence only the protein-coding regions of the human genome. Because protein-coding exons only comprise about 1% of the genome, targeting exons—while conversely excluding other regions―can lower both the cost and time of sequencing. Surprisi...
exome sequencing is a strategy to selectively sequence the coding regions of the genome to identify novel genes associated with rare and common disorders. From: Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013 ...
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...
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 ...
With Whole Exome Sequencing (WES), all exons (protein-coding regions) are analyzed. The genetic testing is therefore focused on the analysis of the 1-2% of the human genome where 85% of known pathogenic mutations are found. Exome diagnostics includes the sequencing of a patient’s exome (...
全外显子测序(Whole Exome Sequencing,WES) 标准分析流程 全外显子测序的标准分析流程通常包括以下步骤: 质量控制(Quality Control,QC) 对原始测序数据进行质量控制,包括去除低质量的序列片段、过滤掉低质量的碱基和低覆盖度的测序片段等。 读取比对(Read Alignment) 将过滤后的测序数据比对到参考基因组上,以确定每...