Characterization of Telomere Variant Repeats Using Long Reads Enables Allele-specific Telomere Length Estimation

Overview

Journal BMC Bioinformatics

Publisher Biomed Central

Specialty Biology

Date 2024 May 16

PMID 38755561

Authors

Zachary Stephens

Jean-Pierre Kocher

Affiliations

Soon will be listed here.

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.

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