Using Reference Standards to Analyse the Sensitivity and Specificity of Sequencing Technologies and Pipelines

摘要

Next Generation Sequencing (NGS) offers significant advantages over conventional Sanger sequencing. It is capable of detecting all mutation types including SNPs, CNV, indels and translocations, even at very low allelic frequencies. In addition, NGS can be a used for many different samples types including FFPE as well as liquid biopsies.