High-throughput telomere length measurement at nucleotide resolution using the PacBio high fidelity sequencing platform.

ABSTRACT: Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes. The progressive shortening of steady-state telomere length in normal human somatic cells is a promising biomarker for age-associated diseases. However, there remain substantial challenges in quantifying telomere length due to the lack of high-throughput method with nucleotide resolution for individual telomere. Here, we describe a workflow to capture telomeres using newly designed telobaits in human culture cell lines as well as clinical patient samples and measure their length accurately at nucleotide resolution using single-molecule real-time (SMRT) sequencing. Our results also reveal the extreme heterogeneity of telomeric variant sequences (TVSs) that are dispersed throughout the telomere repeat region

SUBMITTER: Tham CY 

PROVIDER: S-EPMC9845338 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature