Telomere dataset used for calculating bulk and chromosome specific telomere length

Short telomeres cause age-related disease and long telomeres predispose to cancer; however, the mechanisms regulating telomere length are unclear. To probe these mechanisms, we developed a nanopore sequencing method, Telomere Profiling, that identified mean telomere length to similar a Southern and to the clinical FlowFISH assay.  We mapped telomere reads to specific chromosome ends and, strikingly, could identify chromosome end-specific lengths that differed by more than 6kb. We measured chromosome end-specific telomere lengths for 147 individuals and found that specific chromosome ends were consistently shorter or longer. This rank order of specific chromosome end telomere lengths was also found in newborn cord blood, suggesting telomere length is determined at birth. The average telomere length at birth was ~8kb +/- 250 bp, shorter than previously estimated. Understanding the mechanisms regulating length will allow deeper insights into telomere biology that can lead to new approach..., Telomeres were isolated and measured using telomere profiling protocol with Oxford Nanopore's MinION instrument and basecalled using ONT's guppy basecaller. , , # Telomere Profiling Dataset: Telomere dataset used for calculating bulk and chromosome specific telomere lengths [https://doi.org/10.5061/dryad.dz08kps5d](https://doi.org/10.5061/dryad.dz08kps5d) The dataset includes demultiplexed raw telomere reads that were used for measuring telomere length across a wide population, telomere reads from the HG002 cell line, as well as custom CHM13 and HG002 reference genomes with truncated telomere sequences which were used for mapping reads. ## Description of the data and file structure 1\) Data files types are described in the table below. | **Data Type** | **File Name** | **Description** ...端粒（Telomeres）过短会引发衰老相关疾病，过长则易增加癌症易感风险；然而，调控端粒长度的分子机制目前仍未阐明。为探究此类机制，我们开发了一种纳米孔测序方法——端粒分析（Telomere Profiling），该方法测得的平均端粒长度与Southern印迹法及临床FlowFISH检测结果具有良好一致性。我们将端粒测序读段（reads）定位至特定染色体末端，且令人瞩目的是，能够分辨出差异超过6kb的染色体末端特异性端粒长度。我们对147名个体的染色体末端特异性端粒长度进行了测定，发现特定染色体末端的端粒长度始终呈现偏长或偏短的特征。这种特定染色体末端端粒长度的排序模式在新生儿脐带血样本中同样存在，提示端粒长度在出生时即已确定。新生儿出生时的平均端粒长度约为8kb±250bp，较此前的估计值更短。阐明调控端粒长度的机制，将有助于深入解析端粒生物学，进而催生全新的研究路径……本研究采用牛津纳米孔（Oxford Nanopore）MinION测序仪结合端粒分析流程完成端粒的分离与检测，并通过ONT（Oxford Nanopore Technologies）的Guppy碱基识别软件完成碱基转换。 # 端粒分析数据集（Telomere Profiling Dataset）：用于计算批量及染色体特异性端粒长度的端粒数据集 [https://doi.org/10.5061/dryad.dz08kps5d](https://doi.org/10.5061/dryad.dz08kps5d) 本数据集包含用于跨人群端粒长度检测的已解多路复用（demultiplexed）原始端粒测序读段、HG002细胞系的端粒测序读段，以及用于读段比对的、带有截短端粒序列的定制CHM13与HG002参考基因组。 ## 数据与文件结构说明 1) 数据文件类型如下表所述。 | **数据类型** | **文件名** | **描述** ...