First Complete Human Genome Exposes New Genetic Truths

Begun in 1990, the Human Genome Project is wrapping up its more than 30-year mission by publishing the first-of-its-kind fully complete, gap-free DNA sequence. The multiple papers detailing the Telomere to Telomere (T2T) Consortium’s work were presented in the journal Science, and the finalized sequence will be crucial for future studies examining individual-based differences in DNA.

With this asset, researchers can gain a better understanding of how exactly the genome affects responses to treatment or risk of disease. Moreover, detailed studies looking into chromosome division as well as genetic variation will be made possible. New information is provided for 622 genes associated with disease and general health. The discovered data charts the remaining 8% of the genome, which is populated with impactful but hard-to-read regions composed of repetitive DNA strands and scads of genes.

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“Ever since we had the first draft human genome sequence, determining the exact sequence of complex genomic regions has been challenging,” said Evan Eichler, a Co-chair of the T2T Consortium and Professor of Genome Sciences at the University of Washington School of Medicine. “The complete blueprint is going to revolutionize the way we think about human genomic variation, disease, and evolution.”