The lack of population-scale databases hampers research and diagnostics for medically relevant tandem repeats and repeat expansions. 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 a healthy population. The current version includes 1040 individuals of The 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION. A comprehensive set of medically relevant tandem repeats has been genotyped using STRdust and LongTR to determine the tandem repeat length and sequence composition. PathSTR provides rich visualizations of this data set and the feature to upload one's 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, as such, enable a better assessment of rare tandem repeat alleles observed in patients.

中文翻译：

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使用 pathSTR 对对照队列的纳米孔测序中医学相关的串联重复序列进行可视化和分析


缺乏群体规模的数据库阻碍了医学相关串联重复和重复扩展的研究和诊断。我们试图使用我们的 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健康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 1040 个基因组项目队列中的 1000 个个体。使用 STRdust 和 LongTR 对一组全面的医学相关串联重复序列进行了基因分型，以确定串联重复序列的长度和序列组成。PathSTR 提供了该数据集的丰富可视化效果，并提供了上传数据以与对照组进行比较的功能。我们使用来自 1 型强直性肌营养不良患者的靶向纳米孔测序数据来演示此应用的实施。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，从而更好地评估在患者中观察到的罕见串联重复等位基因。