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Technology The World28. June 2021

Scientists Uncover the Last Missing Parts of Our DNA!

For the very first time, an open and community-based consortium of scientists managed to sequence the entire human genome, including the 8% of DNA missing from the two first attempts, finally giving us the complete set of human genetics.

In 2001, a first draft of the human genome was made. A second one came in 2013. In both drafts, 8% of the genetic material was excluded. Through the Telomere-to-Telomere Consortium, scientists uncovered the missing parts of the human DNA using two modern and accurate sequencing techniques, Oxford Nanopore and PacBio HiFi ultra-long read sequencing, that complement each other.

A complete human genome includes 3.055 billion base pairs of DNA, so 3.055 billion letters must be identified, placed, and stitched together. The consortium discovered 200 million new base pairs, and 2,226 genes including 115 protein-coding genes. And there lies the next chapter of human genetics: discovering what does a protein-coding gene does.


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