Research and diagnostics for medically relevant tandem repeats and repeat expansions are hampered by the lack of population-scale databases. We attempt to fill this gap using our pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in the general population. The current version includes 878 individuals of the 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION. A comprehensive set of medically relevant tandem repeats were genotyped using STRdust to determine the tandem repeat length and sequence composition. PathSTR provides rich visualizations of this dataset, as well as the feature to upload one's own data for comparison along the control cohort. We demonstrate the implementation of this application using data from targeted nanopore sequencing of a patient with Myotonic Dystrophy type 1. This resource will empower the genetics community to get a more complete overview of normal variation in tandem repeat length and sequence composition, and enable a better assessment of the pathogenic impact of tandem repeats observed in patients. PathSTR is available at https://pathstr.bioinf.be

中文翻译：

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对照队列纳米孔测序中的医学相关串联重复序列

由于缺乏人口规模的数据库，医学相关串联重复和重复扩展的研究和诊断受到阻碍。我们尝试使用 pathSTR 网络工具来填补这一空白，该工具利用大型队列的长读长测序来确定一般人群中的重复长度和序列组成。当前版本包括在 Oxford Nanopore Technologies PromethION 上测序的 1000 基因组计划队列中的 878 名个体。使用 STRdust 对一组全面的医学相关串联重复进行基因分型，以确定串联重复长度和序列组成。PathSTR 提供了该数据集的丰富可视化效果，以及上传自己的数据以与对照队列进行比较的功能。我们使用 1 型强直性肌营养不良患者的靶向纳米孔测序数据演示了该应用的实施。该资源将使遗传学界能够更全面地了解串联重复长度和序列组成的正常变异，并能够更好地了解评估在患者中观察到的串联重复的致病影响。PathSTR 可在 https://pathstr.bioinf.be 获取