Nanopore sequencing to measure chromosome end-specific telomere lengths in human cells

Summary/AbstractTelomere length has a significant impact on human health. Short telomeres cause age-related diseases, including pulmonary fibrosis, immunodeficiency, and bone marrow failure, while long telomeres predispose to cancer. Given the impact on human health, accurately measuring telomere length is important. A variety of methods have been developed over the past 40 years to measure telomere length. Many of these methods report only on the mean length of all of the telomere in the cell. Here, we describe the Telomere Profiling protocol using Oxford Nanopore Technologies (ONT) based on long read sequencing that can accurately measure chromosome specific telomere length.