Scientists on 3rd April 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.
“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. “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.
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.