Chang Fengqi, Li Marilyn M
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Department of Molecular and Human Genetics, Dan Duncan Cancer Center, Baylor College of Medicine, Houston, TX.
Cancer Genet. 2013 Dec;206(12):413-9. doi: 10.1016/j.cancergen.2013.10.003. Epub 2013 Oct 11.
Next-generation sequencing (NGS) technology has revolutionized genomic research by decreasing the cost of sequencing while increasing the throughput. The focus now is on potential clinical applications of NGS technology for diagnostics and therapeutics. Clinical applications of NGS in cancer can detect clinically actionable genetic/genomic alterations that are critical for cancer care. These alterations can be of diagnostic, prognostic, or therapeutic significance. In certain cancers, patient risk and prognosis can be predicted based on the mutation profile identified by NGS. Many targeted therapies have been developed for cancer patients who bear specific mutations; however, choosing the right NGS technique for the appropriate clinical application can be challenging, especially in clinical oncology, where the material for NGS tests is often limited and the turnaround time (TAT) for cancer tests is constrained to a few days. Currently, amplicon-based NGS approaches have emerged as the best fit for clinical oncology. In this review, we focus on amplicon-based library preparation, sequencing, sequence data alignment and annotation, and post-analytic interpretation and reporting.
下一代测序(NGS)技术通过降低测序成本并提高通量,彻底改变了基因组研究。现在的重点是NGS技术在诊断和治疗方面的潜在临床应用。NGS在癌症中的临床应用可以检测对癌症治疗至关重要的具有临床可操作性的遗传/基因组改变。这些改变可能具有诊断、预后或治疗意义。在某些癌症中,可以根据NGS鉴定的突变谱预测患者的风险和预后。已经为携带特定突变的癌症患者开发了许多靶向疗法;然而,为适当的临床应用选择合适的NGS技术可能具有挑战性,尤其是在临床肿瘤学中,NGS检测的材料通常有限,癌症检测的周转时间(TAT)被限制在几天内。目前,基于扩增子的NGS方法已成为最适合临床肿瘤学的方法。在本综述中,我们重点关注基于扩增子的文库制备、测序、序列数据比对和注释,以及分析后解释和报告。