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Although the current human reference genome is the most accurate and complete vertebrate genome ever produced, there are still gaps in the DNA sequence, even after two decades of improvements. Now, for the first time, scientists have determined the complete sequence of a human chromosome from one end to the other (‘telomere to telomere’) with no gaps and an unprecedented level of accuracy.

The publication of the telomere-to-telomere assembly of a complete human X chromosome July 14 in Nature is a landmark achievement for genomics researchers. Lead author Karen Miga, a research scientist at 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 sequencing technology pioneered at UC Santa Cruz.

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