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基因组检测:临床实验室视角。

Genomic testing: the clinical laboratory perspective.

机构信息

Clinical Diagnostic Strategies, LLC, Durham, North Carolina, USA.

出版信息

Clin Pharmacol Ther. 2013 Aug;94(2):190-2. doi: 10.1038/clpt.2013.61.

Abstract

The expansion of genetic testing in the clinical laboratory is well under way, with many clinically validated genetic tests already in use. As sequencing technology becomes more efficient and less costly, clinical laboratories will make the transition from single-gene testing to multigene panels. Early, more targeted applications will gradually be replaced by more comprehensive genomic offerings, including exome and whole-genome analysis. Despite significant technological advancements, many obstacles remain for full incorporation of whole-genome testing.

摘要

基因检测在临床实验室中的应用正在迅速扩展,许多经过临床验证的基因检测已经在使用中。随着测序技术变得更加高效和廉价,临床实验室将从单基因检测过渡到多基因panel 检测。早期更有针对性的应用将逐渐被更全面的基因组检测所取代,包括外显子组和全基因组分析。尽管技术取得了重大进展,但全基因组检测的全面应用仍面临许多障碍。

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