Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve tandem repeat analysis, especially for long or complex repeats. Here, we introduce LongTR, which accurately genotypes tandem repeats from high-fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https://github.com/gymrek-lab/longtr and https://zenodo.org/doi/10.5281/zenodo.11403979 .

中文翻译：

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LongTR：长读长串联重复遗传变异的全基因组分析


串联重复在人类基因组中很常见，重复长度的变化与多种性状有关。长读长测序技术的最新改进有可能极大地改善串联重复分析，特别是对于长或复杂的重复。在这里，我们介绍 LongTR，它可以根据 PacBio 和 Oxford Nanopore Technologies 提供的高保真长读段准确地对串联重复进行基因分型。 LongTR 可在 https://github.com/gymrek-lab/longtr 和 https://zenodo.org/doi/10.5281/zenodo.11403979 上免费获取。