On Thursday, scientists revealed the first complete human genome. According to a Reuters article, they filled in holes that had remained following prior efforts.
The researchers revealed what was thought to be the full sequencing of the human genome in 2003. However, about 8% of it had not fully deciphered because it contained extremely repetitive DNA portions that were difficult to combine with the rest.
Some scientists solved the problem in a study published in the journal ‘Science.’ The study was first made public last year before going through the formal peer-review procedure.
Eric Green, the director of the National Human Genome Research Institute (NHGRI), which is part of the US 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.”
“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.
3.055 billion base pairs make up the full version of a group of scientists. These are the building blocks of our chromosomes and genes. In addition, there are 19,969 genes that code for proteins. The researchers discovered roughly 2,000 novel genes among these. Although most are inactive, there is a chance that 115 are still alive. Scientists discovered over two million new genetic variations. A total of 622 of these were there in medically significant genes.
The new DNA sequences also revealed new information about the centromere region. It grabs and pulls chromosomes apart as cells split. It does it to ensure that each “daughter” cell obtains the appropriate amount of chromosomes.
This research also holds fresh promise in terms of uncovering hints about disease-causing mutations and also genetic variation among people.