Scientists publish the first complete human genome, filling in gaps remaining after previous efforts while offering new promise in the search for clues regarding disease-causing mutations and genetic variation among the world’s 7.9 billion people.
Researchers in 2003 unveile what was then bill as the complete sequence of the human genome.
But about 8% of it had not fully deciphered, mainly because it consist of highly repetitive chunks of DNA that were difficult to mesh with the rest.
A consortium of scientists resolve that in research publish in the journal Science.
The work was initially made public last year before its formal peer review process.
Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the U.S. National Institutes of Health, Said :
The consortium’s full version is compose of 3.055 billion base pairs, the units from which chromosomes and our genes are built, and 19,969 genes that encode proteins.
Of these genes, the researchers identified about 2,000 new ones.
Most of those are disable, but 115 may still be active.
The scientists also spot about 2 million additional genetic variants, 622 of which were present in medically relevant genes.
The consortium was dubbed Telomere-to-Telomere (T2T), name after the structures found at the ends of all chromosomes, the threadlike structure in the nucleus of most living cells that carries genetic information in the form of genes.
Adam Phillippy, one of the leaders of T2T and a senior investigator at NHGRI, Said :
Nicolas Altemose, a postdoctoral fellow at the University of California, Berkeley, Said :
Among many other things, the new DNA sequences provide fresh detail about the region around what is called the centromere, where chromosomes are grab and pull apart when cells divide to ensure that each “daughter” cell inherits the proper number of chromosomes.