Scientists in the United States have for the first time published the complete human genome, which will help humanity to detect disease-causing mutations and genetic variations among 7.9 billion people across the world.
Earlier the research was conducted but about 8% of it had not been fully deciphered, mainly because it consisted of highly repetitive chunks of DNA that were difficult to mesh with the rest.
Researchers in 2003 had unveiled what was called the complete sequence of the human genome but, there were some gaps remaining. The new findings were initially made public last year before its formal peer-review process.
“Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,” Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the U.S. National Institutes of Health, said in a statement to Reuters.
“This foundational information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will empower genetic studies of human disease,” Green added.
The consortium’s full version is composed 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 disabled, but 115 may still be active. The scientists also spotted about 2 million additional genetic variants, 622 of which were present in medically relevant genes.
The consortium was dubbed Telomere-to-Telomere (T2T), named 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.
“In the future, when someone has their genome sequenced, we will be able to identify all of the variants in their DNA and use that information to better guide their healthcare,” Adam Phillippy, one of the leaders of T2T and a senior investigator at NHGRI, said in a statement.
“Truly finishing the human genome sequence was like putting on a new pair of glasses. Now that we can clearly see everything, we are one step closer to understanding what it all means,” Phillippy added.
Among other things, the new DNA sequences provided fresh detail about the region around what is called the centromere, where chromosomes are grabbed and pulled apart when cells divide to ensure that each “daughter” cell inherits the proper number of chromosomes.
“Uncovering the complete sequence of these formerly missing regions of the genome told us so much about how they’re organized, which was totally unknown for many chromosomes,” Nicolas Altemose, a postdoctoral fellow at the University of California, Berkeley, said in a statement./LAB/SNG/
Credit- Reuters