Scientists on Thursday published the first complete human genome, filling in gaps left over from previous efforts and offering new promise in the search for clues about disease-causing mutations and genetic variation among the world’s 7.9 billion people.
In 2003, researchers revealed what was then heralded as the complete sequence of the human genome. But about 8% of it had not been fully deciphered, mainly because it consisted of highly repetitive pieces of DNA that were difficult to combine with the rest.
A consortium of scientists solved this in research published in the journal Science. The work was initially made public last year, ahead of 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 model,” said Eric Green, director of the National Institute for Human Genome Research (NHGRI), part of the National Institutes of Health. US, in a statement.
“This fundamental information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enable genetic studies of human diseases,” Green added.
The full version of the consortium is made up 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.
