对患者基因组进行深度测序以进行疾病诊断：它何时将成为常规？
Deep sequencing of patient genomes for disease diagnosis: when will it become routine?
机构信息
National Center for Genome Resources, Santa Fe, NM 87505, USA.
出版信息
Sci Transl Med. 2011 Jun 15;3(87):87ps23. doi: 10.1126/scitranslmed.3002695.
Abstract
Next-generation sequencing technologies have greatly lowered the cost of whole-genome sequencing (WGS) and related approaches. Thus, comprehensive sequencing for diagnostic purposes may clear this financial hurdle in the near future. The report by Bainbridge and colleagues in this issue of Science Translational Medicine illustrates the diagnostic power of WGS. In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis.
摘要
下一代测序技术大大降低了全基因组测序 (WGS) 和相关方法的成本。因此，为诊断目的而进行的全面测序可能在不久的将来清除这一财务障碍。Bainbridge 及其同事在本期《科学转化医学》上的报告说明了 WGS 的诊断能力。在本期观点中，我们讨论了基因组测序是否以及如何可能成为临床诊断的常规手段。
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