Whole exome sequencing Most of the DNA sequence variants that lead to alterations in protein function are located in exons, which encompass approximately 1% of the genome. By specifically targeting exon regions, whole exome sequencing is a simple and efficient approach to identify rar...
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...
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...
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...
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...
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 (...
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 ...
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...
Exons that make up the protein-coding genes comprise 1% of the human genome, so focusing sequencing on this portion of the genome is more cost-effective than whole genome sequencing and will provide more comprehensive data than other sequencing methods. This approach can fast-track research in ...