PDF(Pubmed)
Abstract：
Telomeres are regions of repetitive DNA at the ends of linear chromosomes which protect chromosome ends from degradation. Telomere lengths have been extensively studied in the context of aging and disease, though most studies use average telomere lengths which are of limited utility. We present a method for identifying all 92 telomere alleles from long read sequencing data. Individual telomeres are identified using variant repeats proximal to telomere regions, which are unique across alleles. This high-throughput and high-resolution characterization of telomeres could be foundational to future studies investigating the roles of specific telomeres in aging and disease.
摘要：
端粒是线性染色体末端的重复DNA区域，可保护染色体末端免受降解。端粒长度在衰老和疾病的背景下得到了广泛的研究，尽管大多数研究使用平均端粒长度，但效果有限。我们提出了一种从长读取测序数据中鉴定所有92个端粒等位基因的方法。使用端粒区域附近的变异重复序列鉴定个体端粒，在等位基因中是独一无二的。端粒的这种高通量和高分辨率表征可能是未来研究特定端粒在衰老和疾病中的作用的基础。
