Scientists publish first complete human genome

AHMEDABAD, April 01 (Reuters): Scientists on Thursday published 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 unveiled what was then billed as the complete sequence of the human genome. But about 8 per cent 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.

A consortium of scientists resolved that in research published in the journal Science. The work was 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 US National Institutes of Health, said in a statement.

"This foundational information will strengthen the many ongoing efforts to understand all the unctional 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.