This includes genes important in aging, brain function, immunity, heart disease and drug detoxification, he said. "This could indeed be a game-changer for the genomic study of cancer, developmental disorders and other diseases to which these variants contribute," he said.Īlthough, the complete genome "improves our understanding of genetics in principle of all diseases," the new genes and parts of genes that are being uncovered have a wide range of functions, Eichler added. However, the latest generation of long-read DNA sequencing technologies, which have also helped make the process less expensive, "have revolutionized our ability to discover these mutations and their impacts on human health," McCoy said. In the past, structural variation has been "technically very challenging to study" due to limitations in DNA sequencing technologies, according to McCoy. This was based on an analysis that compared the reference genome with genetic data collected from more than 3,200 people from around the world, McCoy and his colleagues said. In an aspect of the research led by McCoy and his team, the availability of a complete human reference genome was found to "greatly improve" the accuracy of structural variant identification, or "large-scale genome rearrangements and gains and losses of portions of chromosomes," he said. "It is very likely that we will identify novel disease associations that were hidden within these technically challenging regions," said McCoy, an assistant professor of biology at Johns Hopkins University in Baltimore. "The addition of nearly 200 million base pairs of sequence - on the scale of an entire new chromosome - to the reference genome allows for the discovery of new genetic variations, including those that cause disease," another of the project researchers, Rajiv McCoy, told UPI in an email.
#Who mapped the human genome code#
The entire genome is made of four types of DNA base pairs, which, in groups of three, code for the amino acids used to build proteins, they said. This increased the total number of DNA base pairs in the human genome to 3.05 billion and identified 100 new genes capable of producing proteins, which are essential to many functions and processes in the human body, the researchers said.