Scientists finish first gapless sequence of a human genome
Researchers have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft. The Telomere to Telomere consortium, led by researchers at the National Human Genome Research Institute, University of California Santa Cruz, and University of Washington Seattle, produced the sequence, which spans roughly 3 billion DNA bases. Analyses of the complete sequence also produced more accurate maps for five chromosome arms. Using the new reference, the consortium identified more than 2 million additional variants in the human genome, including within 622 medically relevant genes.
A complete reference genome could improve accuracy of research into genetic contributions to disease, though clinical applications were not described.
Source: Researchers generate the first complete, gapless sequence of a human genome (genome.gov).
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].
- Draft human pangenome reference published May 10, 2023