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The Status and Impact of Clinical Tumor Genome Sequencing.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2019-08-30 , DOI: 10.1146/annurev-genom-083118-015034
Kenna R Mills Shaw 1 , Anirban Maitra 1
Affiliation  

Since the discovery that DNA alterations initiate tumorigenesis, scientists and clinicians have been exploring ways to counter these changes with targeted therapeutics. The sequencing of tumor DNA was initially limited to highly actionable hot spots-areas of the genome that are frequently altered and have an approved matched therapy in a specific tumor type. Large-scale genome sequencing programs quickly developed technological improvements that enabled the deployment of whole-exome and whole-genome sequencing technologies at scale for pristine sample materials in research environments. However, the turning point for precision medicine in oncology was the innovations in clinical laboratories that improved turnaround time, depth of coverage, and the ability to reliably sequence archived, clinically available samples. Today, tumor genome sequencing no longer suffers from significant technical or financial hurdles, and the next opportunity for improvement lies in the optimal utilization of the technologies and data for many different tumor types.

中文翻译:

临床肿瘤基因组测序的现状和影响。

自从发现DNA改变会引发肿瘤发生以来,科学家和临床医生一直在探索通过靶向疗法来应对这些变化的方法。最初,肿瘤DNA的测序仅限于基因组中高度可操作的热点区域,这些区域经常发生变化并且在特定肿瘤类型中具有经过批准的匹配疗法。大规模的基因组测序程序迅速发展了技术进步,从而使大规模的全外显子组和全基因组测序技术得以在研究环境中大规模部署。但是,肿瘤学上精确医学的转折点是临床实验室的创新,这些创新缩短了周转时间,覆盖范围,并能够可靠地对已存档的临床可用样品进行测序。今天,
更新日期:2020-04-21
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