LongTR：从长读段中进行串联重复的全基因组遗传变异分析。
LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.
机构信息
Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, USA.
出版信息
Genome Biol. 2024 Jul 4;25(1):176. doi: 10.1186/s13059-024-03319-2.
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 .
串联重复在人类基因组中很常见，重复长度的变化与多种特征有关。最近长读测序技术的改进有可能极大地改善串联重复分析，特别是对于长的或复杂的重复。在这里，我们介绍了 LongTR，它可以从 PacBio 和 Oxford Nanopore Technologies 提供的高保真长读中准确地对串联重复进行基因分型。LongTR 可在以下网址免费获得：https://github.com/gymrek-lab/longtr 和 https://zenodo.org/doi/10.5281/zenodo.11403979。
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