Researchers have created the first entire, gap-free human genome sequence

Two decades after the Human Genome Project delivered the first draught human genome sequence, scientists have published the first full, gapless sequence of a human genome.

According to researchers, knowing the whole spectrum of human genomic variation and the genetic contributions to specific disorders requires obtaining a complete, gap-free sequence of the roughly 3 billion bases (or ‘letters’) in our DNA.

The Telomere to Telomere (T2T) team led by experts from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, the University of California, Santa Cruz, and the University of Washington, Seattle, carried out the research. The study was primarily funded by the National Human Genome Research Institute (NHGRI).

Analyses of the entire genome sequence will considerably improve our understanding of chromosomes, including more precise maps for five chromosome arms, opening up new research avenues.

This contributes to the understanding of how chromosomes properly segregate and divide in basic biology.

 The T2T consortium utilised the now-complete genome sequence as a starting point to find nearly 2 million new variations in the human genome. These findings add to our understanding of the genetic variations found in 622 medically important genes.