Article
Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation.
BMC bioinformatics - 17 May 2024
Stephens Zachary, Kocher Jean-Pierre
Abstract excerpt
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...
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