Nguyen Linh, Choi Jae Young
bioRxiv. 2025 Jul 15:2025.07.10.664126. doi: 10.1101/2025.07.10.664126.
Telomeres protect chromosome ends and its length varies significantly between organisms. Because telomere length variation is associated with various biomedical and eco-evolutionary phenotypes, many biological fields are interest in understanding its biological significance. Here we introduce Topsicle, a computational method that estimates telomere length from whole genome long read sequencing data using k-mer and change point detection analysis. Simulations showed Topsicle was robust to sequencing errors and coverage. Application of Topsicle on plant and human cancer cells showed high accuracy and comparable results to direct telomere length measurements. We predict Topsicle will be a useful tool for studying telomere biology. Topsicle is available at https://github.com/jaeyoungchoilab/Topsicle.
端粒保护染色体末端，其长度在不同生物体之间存在显著差异。由于端粒长度变异与多种生物医学和生态进化表型相关，许多生物学领域都对理解其生物学意义感兴趣。在此，我们介绍Topsicle，这是一种计算方法，可利用k-mer和变化点检测分析从全基因组长读测序数据中估计端粒长度。模拟结果表明，Topsicle对测序错误和覆盖度具有稳健性。将Topsicle应用于植物和人类癌细胞显示出高精度，且结果与直接端粒长度测量相当。我们预测Topsicle将成为研究端粒生物学的有用工具。可在https://github.com/jaeyoungchoilab/Topsicle获取Topsicle。
