In a first, complete human genome published by scientists

WION Web Team
Washington Updated: Apr 01, 2022, 01:47 PM(IST)

First complete human genome published by scientists (representative image). Photograph:( Reuters )

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The research has been published in the journal ‘Science’. Last year, the work was made public initially before formal peer review process. This study also offered new promise to search for clues related to disease-causing mutations and genetic variation among people

The first complete human genome has been published by scientists on Thursday. They filled in gaps, which remained after previous efforts, a Reuters report said.   

In 2003, the researchers unveiled what was regarded as the complete sequence of the human genome. But around 8% of it had not been fully deciphered as it had highly repetitive chunks of the DNA, which were difficult to mesh with the rest.  

In research, which has been published in the journal ‘Science’, some scientists resolved it. Last year, the work was made public initially before formal peer review process.  

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In a statement, Eric Green, director, National Human Genome Research Institute (NHGRI), which is part of the US National Institutes of Health, said, "Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint."   

"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 full version of group of scientists is composed of 3.055 billion base pairs. These are the units from which chromosomes and our genes are built. And 19,969 genes, which encode proteins. Of these genes, the researchers identified about 2,000 new ones. Most are disabled, but 115 may be active. About two million additional genetic variants were also spotted by scientists. Around 622 of these were present in medically relevant genes.   

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The new DNA sequences also provided fresh detail about the centromere region, where chromosomes are grabbed and pulled apart when cells divide to ensure that each "daughter" cell inherits the proper number of chromosomes.   

This study also offered new promise to search for clues related to disease-causing mutations and genetic variation among people.  

(With inputs from agencies) 

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