Haplotype-phased telomere-to-telomere (T2T) genome assemblies marks a significant milestone in genomics, offering a comprehensive view of the entire human genome through ultra-long sequencing methods. This innovative approach not only enhances our understanding of genetic structures but also sets the stage for a new standard in clinical care. As we transition from a focus primarily on cancer and rare diseases, T2T sequencing will enable the expansion of clinical applications to encompass a broader range of common diseases, facilitating disease prediction and prevention strategies even in healthy individuals for instance via the parallel generation of epigenetic data.

Recent advancements in T2T sequencing, particularly the diploid T2T genome reference published by Liao et al. in Nature (2023), provide a robust foundation for this transition. To advance future research, the Institute for Medical Genetics and Applied Genomics Tübingen, Germany, generated their first two complete T2T genomes and makes them available for download, including all raw sequencing data used for the verrko assembly. These T2T-genomes have been assembled using only Nanopore data (Ultra-long reads, poreC and APK libraries).