Scientists have published the first complete human genome, opening new avenues in the search for clues regarding disease-causing mutations and genetic changes among the world’s population. Earlier in 2003, researchers had revealed the complete sequence of the human genome, however, about 8% of it had not been completely deciphered, primarily due to redundant pieces of DNA difficult to mesh with the rest. 

Dr Eric Green Director of the National Human Genome Research Institute, part of the U.S. 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.”

The consortium’s full version is made up of 3.055 billion base pairs, and 19, 969 genes that encode proteins. The researchers also detected about 2 million additional genetic variants, 622 of which were present in medically relevant genes.