单分子实时(SMRT)测序的时代到来了:医学诊断的应用和实用
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing.
短读大规模并行测序已经成为医疗领域的标准诊断工具。然而，短读技术有其固有的局限性，如GC偏差、难以映射到重复的元素、难以识别杂合序列以及难以相位化等位基因。长读单分子测序仪解决了这些障碍。此外，他们提供了更高的一致性准确性，可以检测到来自本地DNA的表观遗传修饰。第一个商用的长读单分子平台是基于PacBio单分子实时(SMRT)测序技术的RS系统，该技术已经发展成为他们的RSII和Sequel系统。在这里，我们概括了如何SMRT测序是革命性的宪法，生殖，癌症，微生物和病毒的基因检测。
