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 rare...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
Fast and scalable exome sequencing “Speed is important for our service. But so is daily processing of exomes without batching. Ion Torrent platform offers us both.” Dr. Sara Alvarez, Medical Director NIMGenetics, Spain Simple, efficient exome enrichment—se...
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...
Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
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 (...
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.
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...
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 focuses on what is thought to be the most medically relevant part of the human genome, as this reduces the overhead of both the molecular and analytical aspects. This approach has been broadly applied to identifying the genes that underlie rare disorders. In only the pas...