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% 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.published in the journal Science. The work was initially made public last year before its formal peer review process.
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.
"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.
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