Telomere variant sequences encode a heritable genetic blueprint for allele-specific telomere length

A high-resolution workflow combining PacBio and Nanopore long-read sequencing platforms has been developed to map allele-specific telomere length in clinical patient samples. By tracing allele-specific telomeric sequence in family members across multiple generations, we show that telomeric variant sequences (TVSs) interspersed throughout the canonical repeat region are heritable (with mean similarity score > 0.95), allele-specific, and account for the extreme heterogeneity of telomere length between alleles.

• Type: Population Genomics
• Archive: European Genome-phenome Archive (EGA)