NASTRA: accurate analysis of short tandem repeat markers by nanopore sequencing with repeat-structure-aware algorithm

文献类型： 外文期刊

第一作者： Ren, Zilin

作者： Ren, Zilin;Zhang, Yixiang;Zhou, Bo;Ren, Zilin;Zhang, Yixiang;Sun, Pingping;Yang, Tingting;Yan, Jiangwei;Xue, Jiguo;Bo, Xiaochen;Ni, Ming

作者机构：

关键词： nanopore sequencing; short tandem repeats; cell line authentication; accurate analysis method

期刊名称：BRIEFINGS IN BIOINFORMATICS （ 影响因子：7.7； 五年影响因子：8.7 ）

ISSN： 1467-5463

年卷期： 2024 年 25 卷 6 期

页码：

收录情况： SCI

摘要： Short-tandem repeats (STRs) are the type of genetic markers extensively utilized in biomedical and forensic applications. Due to sequencing noise in nanopore sequencing, accurate analysis methods are lacking. We developed NASTRA, an innovative tool for Nanopore Autosomal Short Tandem Repeat Analysis, which overcomes traditional database-based methods' limitations and provides a precise germline analysis of STR genetic markers without the need for allele sequence reference. Demonstrating high accuracy in cell line authentication testing and paternity testing, NASTRA significantly surpasses existing methods in both speed and accuracy. This advancement makes it a promising solution for rapid cell line authentication and kinship testing, highlighting the potential of nanopore sequencing for in-field applications.

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