The complete human genome finally sequenced

In 2003, the Human Genome Project made history when it sequenced 92% of the human genome. However, for almost two decades, researchers were struggling to decipher the remaining 8%. Now, a team of nearly 100 scientists from the Telomere-to-Telomere (T2T) Consortium has unveiled the complete human genome.

The consortium’s gapless version of all 22 autosomes and the X sex chromosome is composed of 3.055 billion base pairs and 19,969 protein-coding genes. Of the protein-coding genes, the T2T team found about 2,000 new ones, most of them disabled, but 115 of which may still be expressed. They also found about 2 million additional variants in the human genome, 622 of which occur in medically relevant genes.

This seminal, historical study has been recently published in the journal Science, where six articles describe the entire sequencing effort as well as additional analysis of its implications.

“Uncovering the complete sequence of these formerly missing regions of the genome told us so much about how they’re organized, which was totally unknown for many chromosomes,” said Nicolas Altemose, a postdoctoral fellow at the University of California, Berkeley, and a co-author of four papers about the completed genome.

This study will substantially impact genome analysis, opening the door for future advances in genomics, human biology and medicine. Congratulations on this new milestone!

Journal reference:
Nurk S et al. (2022). The complete sequence of a human genome. Science.