The first telomere-to-telomere human chromosome was published in Nature this week — a landmark achievement for genomics researchers.
Lead author Karen Miga, from the UC Santa Cruz Genomics Institute, said the project was made possible by new sequencing technologies that enable “ultra-long reads,” such as the nanopore technology.
The team conclude:
"Our results demonstrate that finishing the entire human genome is now within reach and the data presented here will enable ongoing efforts to complete the remaining human chromosomes."
Watch Karen Miga's 2019 London Calling plenary to hear more about this work:
Register here for next year's London Calling