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[SITUATION] · [ACTIVE] · [TECHNOLOGY]

2 clusters · 6 sources · 1 days · First seen 6 days ago · Last updated 6 days ago

First Complete Human Diploid Genome

Overview

In early August 2026, an international research team announced the first fully sequenced human diploid genome, reconstructing both maternal and paternal chromosome sets from telomere to telomere. The achievement completed the remaining ~8 % of the genome that the original Human Genome Project left unread and built on the 2022 Telomere‑to‑Telomere (T2T) effort, which had produced a haploid reference.

The consortium released twelve papers describing the new reference, which adds roughly 15 % (about 900 million bases) of DNA previously missing, including regions linked to cancer, heart disease, and neurological disorders. Researchers highlighted the impact on personalized medicine, noting that sequencing costs have fallen dramatically—from the $4.3 billion of the original project to about $5,000 per genome. The work also involved sequencing eight other vertebrate species to train AI models for deeper biological insight.

Entities

Johns Hopkins University · Adam Phillippy · National Institute of Standards and Technology · HG002 sample · National Institute of Human Genome Research

Timeline

6 days ago

[TECHNOLOGY] 2 sources
Telomere-to-Telomere Consortium completes first full human genome
The T2T Consortium has built the first complete human genome from a real donor, adding 15 % new DNA and cutting sequencing costs to about $5,000, paving the way for personalized medicine.
6 days ago

[TECHNOLOGY] 4 sources
Scientists complete first fully sequenced human diploid genome
A team from Johns Hopkins, NIH and NIST completed the first fully sequenced diploid human genome, filling the last 8 % missing from the original project and paving the way for personalized medicine.

Sources

diariodealmeria.es · diariodecadiz.es · eldiadecordoba.es · granadahoy.com · inversion.es · noticias24hrs.com.ve