小柯机器人

美国斯坦福大学Euan A. Ashley研究小组利用超快速纳米孔基因组测序加速致病变种的鉴别。相关论文于2022年3月28日在线发表在《自然—生物技术》杂志上。

研究人员开发了一种超快速纳米孔全基因组测序（WGS）的方法，它结合了优化的样品制备方案，将测序分布在48个泳道上，近乎实时的碱基调用和比对，加速的变种鉴别和快速的变种过滤，以便高效的人工审查。该方法被应用于两个临床病例，从样品制备到变种鉴定，低于8小时就确定了一个候选变种。研究人员表明，这个框架提供了准确的变种调用和有效的优先排序，与以前的方法相比，诊断性临床基因组测序的速度提高了两倍。

据介绍，WGS能识别导致遗传疾病的变种，但测序和分析所需的时间一直是其在急性病患者中应用的障碍。

附：英文原文

Title: Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

Author: Goenka, Sneha D., Gorzynski, John E., Shafin, Kishwar, Fisk, Dianna G., Pesout, Trevor, Jensen, Tanner D., Monlong, Jean, Chang, Pi-Chuan, Baid, Gunjan, Bernstein, Jonathan A., Christle, Jeffrey W., Dalton, Karen P., Garalde, Daniel R., Grove, Megan E., Guillory, Joseph, Kolesnikov, Alexey, Nattestad, Maria, Ruzhnikov, Maura R. Z., Samadi, Mehrzad, Sethia, Ankit, Spiteri, Elizabeth, Wright, Christopher J., Xiong, Katherine, Zhu, Tong, Jain, Miten, Sedlazeck, Fritz J., Carroll, Andrew, Paten, Benedict, Ashley, Euan A.

Issue&Volume: 2022-03-28

Abstract: Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nanopore WGS that combines an optimized sample preparation protocol, distributing sequencing over 48 flow cells, near real-time base calling and alignment, accelerated variant calling and fast variant filtration for efficient manual review. Application to two example clinical cases identified a candidate variant in <8h from sample preparation to variant identification. We show that this framework provides accurate variant calls and efficient prioritization, and accelerates diagnostic clinical genome sequencing twofold compared with previous approaches.

DOI: 10.1038/s41587-022-01221-5

Source: https://www.nature.com/articles/s41587-022-01221-5

Nature Biotechnology：《自然—生物技术》，创刊于1996年。隶属于施普林格·自然出版集团，最新IF：68.164
官方网址：https://www.nature.com/nbt/
投稿链接：https://mts-nbt.nature.com/cgi-bin/main.plex