Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions

Abstract

Purpose of Review The length of telomeres, protective structures at the chromosome ends, is a well-established biomarker for pathological conditions including multisystemic syndromes called telomere biology disorders. Approaches to measure telomere length (TL) differ on whether they estimate average, distribution, or chromosome-specific TL, and each presents their own advantages and limitations. Recent Findings The development of long-read sequencing and publication of the telomere-to-telomere human genome reference has allowed for scalable and high-resolution TL estimation in pre-existing sequencing datasets but is still impractical as a dedicated TL test. As sequencing costs continue to fall and strategies for selectively enriching telomere regions prior to sequencing improve, these approaches may become a promising alternative to classic methods. Summary Measurement methods rely on probe hybridization, qPCR or more recently, computational methods using sequencing data. Refinements of existing techniques and new approaches have been recently developed but a test that is accurate, simple, and scalable is still lacking.

Telomere Length Variation in Model Bryophytes

“…While much effort in the past was focused on understanding telomere length homeostasis in the flowering plants and, specifically, in the model plant A. thaliana, less attention was given to evaluating telomere length in the early diverging land plant lineages. Although current technological advances allow for powerful telomere length estimation algorithms using whole-genome sequencing efforts [51], experimental confirmation of in silico data is often necessary to validate and support computational approaches [41].…”