Scientists have mapped the entire human genome for the first time. If you thought this already happened, you are not alone. In 2003, the Human Genome Project announced the completion of its 15 year goal to do the same. But it was only about 92% complete. As reported by Gizmodo, advanced technology was needed to sequence the last 8%. In 2018, an international team of researchers formed the Telomere-to-Telomere (T2T) Consortium to complete the goal. Now they have, thanks to faster and cheaper instruments and increased computer power.
The telomere is the tip of a chromosome, where non-coding DNA protects the rest from damage. So T2T is essentially tip to tip, or start to finish. The majority of the gaps were in the repetitive sequences of the telomeres and centromeres. Centromeres are the central part of each chromosome that holds the short arms and long arms together.
Both of these regions play important roles is cell division and can cause problems if disrupted. With those areas successfully sequenced, scientists can now advance their understanding of many genetic diseases.
The peer-reviewed journal Science published the T2T results. Five related research articles are also included in the issue. These cover not just the final 8% of the human genome but also technological advancements and medical applications. Our DNA consists of over 3 billion base pairs. This study added over 200 million new ones to the dataset, which is publicly available to browse and visualize.
🎉BIG NEWS! 🎉— UC Santa Cruz Genomics Institute (@ucscgenomics) March 31, 2022
We've FULLY SEQUENCED the HUMAN GENOME! 🧬
This breakthrough achievement could lead to HUGE advances in medicine and research. Thanks to UCSC's @khmiga & @genome_gov 's @aphillippy for leading the #T2T team through this monumental effort! https://t.co/InD53TpHUu pic.twitter.com/WRFLMiSfdM
As always in science, there is more work to do. The T2T Consortium is part of the effort to sequence 350 complete human genomes from diverse individuals. This growing field is called pangenomics. The more information about diverse populations in the dataset, the better.
Featured Image: National Human Genome Research Institute