Telomere-to-Telomere Consortium completes first full human genome

The Telomere-to-Telomere (T2T) Consortium has reconstructed the complete genome of a living individual, assembling both maternal and paternal chromosome sets from telomere to telomere. The new reference adds about 15 % more DNA – roughly 900 million bases – that were missing from earlier maps, including regions linked to cancer, heart disease and neurological disorders.

Lead author Adam Phillippy of Johns Hopkins University said the achievement brings personalized medicine closer to routine use, noting that sequencing costs have fallen from the $4.3 billion spent on the original Human Genome Project to roughly $5,000 per genome. The consortium also sequenced eight other vertebrate species to train artificial‑intelligence models for deeper biological insight.