利用 Qitan Technology 的 QNome 对法医短串联重复序列进行纳米孔测序。

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC
Ting-Ting Yang, Jia-Rong Zhang, Zi-Han Xie, Zi-Lin Ren, Jiang-Wei Yan, Ming Ni
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引用次数: 0

摘要

纳米孔测序设备可高度便携且成本低廉。因此,纳米孔测序在现场法医应用中大有可为。先前的研究表明,使用牛津纳米孔技术公司的测序仪进行法医短串联重复序列(STR)基因分型是可行的。最近,奇坦科技推出了新型便携式纳米孔测序仪,成为全球第二家供应商。在此,我们首次评估了 QNome(QNome-3841)在 STR 纳米孔测序中的准确性,并与 MinION(MinION Mk1B)进行了比较。我们对 21 个非亲缘个体的 54 条 STR 和 2800M 标准 DNA 进行了分析。使用 QNome 测序的二倍体 STR 和单倍体 STR 的总体准确率分别为 53.5%(706 条中的 378 条)和 82.7%(162 条中的 134 条)。在测序数据量相似、生物信息学分析相同的情况下,其准确率明显低于 MinION(二倍体 STRs,84.5%;单倍体,90.7%)。虽然使用 QNome 对二倍体 STR 进行分型的结果并不可靠,但单倍体 STR 的分型结果却一直很正确。在基于 QNome 的 STR 分型中,大多数错误(58.8%)都是重复单位与真实等位基因有一个重复的偏差,这与 STR 重复序列中的同源多聚物有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Nanopore sequencing of forensic short tandem repeats using QNome of Qitan Technology

Devices of nanopore sequencing can be highly portable and of low cost. Thus, nanopore sequencing is promising in in-field forensic applications. Previous investigations have demonstrated that nanopore sequencing is feasible for genotyping forensic short tandem repeats (STRs) by using sequencers of Oxford Nanopore Technologies. Recently, Qitan Technology launched a new portable nanopore sequencer and became the second supplier in the world. Here, for the first time, we assess the QNome (QNome-3841) for its accuracy in nanopore sequencing of STRs and compare with MinION (MinION Mk1B). We profile 54 STRs of 21 unrelated individuals and 2800M standard DNA. The overall accuracy for diploid STRs and haploid STRs were 53.5% (378 of 706) and 82.7% (134 of 162), respectively, by using QNome. The accuracies were remarkably lower than those of MinION (diploid STRs, 84.5%; haploid, 90.7%), with a similar amount of sequencing data and identical bioinformatics analysis. Although it was not reliable for diploid STRs typing by using QNome, the haploid STRs were consistently correctly typed. The majority of errors (58.8%) in QNome-based STR typing were one-repeat deviations of repeat units in the error from true allele, related with homopolymers in repeats of STRs.

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来源期刊
CiteScore
7.20
自引率
4.30%
发文量
567
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