Capture‐based next‐generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing

ConclusionOur study has shown that NGS‐based molecular diagnosis is more sensitive and comprehensive to detect genomic alterations in cancer, and supports a direct clinical use for guiding targeted therapy.

In this study, we have developed and validated a next‐generation sequencing (NGS)‐based cancer genomic diagnosis targeting hundreds of prognosis and therapeutics relevant genes on multiple types of cancer and specimen. We have assessed analytical sensitivity, specificity, and accuracy of the assay. Also, we developed clinical‐applicable analysis pipelines that are capable of detecting base substitutions, indels, and gene copy number variations (CNVs). Our study has shown that NGS‐based molecular diagnosis is more sensitive and comprehensive to detect genomic alterations in cancer, and supports a direct clinical use for guiding targeted therapy.

Source: Molecular Genetics & Genomic Medicine - January 1, 2016 Category: Genetics & Stem Cells Authors: Jing Xie, Xiongxiong Lu, Xue Wu, Xiaoyi Lin, Chao Zhang, Xiaofang Huang, Zhili Chang, Xinjing Wang, Chenlei Wen, Xiaomei Tang, Minmin Shi, Qian Zhan, Hao Chen, Xiaxing Deng, Chenghong Peng, Hongwei Li, Yuan Fang, Yang Shao, Baiyong Shen Tags: Original Article Source Type: research