Johns Hopkins Researchers Collaborate on Human Genome Project

BALTIMORE —  A group of Johns Hopkins University scientists has collaborated with more than 100 researchers around the world to assemble and analyze the first complete sequence of a human genome — two decades after the Human Genome Project produced the first draft.

The work is part of the Telomere-to-Telomere consortium, led by researchers at the National Human Genome Research Institute; University of California, Santa Cruz; and University of Washington, Seattle.

The revelations are expected to open new lines of molecular and genetic exploration while providing scientists with a clearer picture of how DNA affects the risks of diseases, and how genes are expressed and regulated.

The findings appear in Monday’s issue of Science, along with companion papers in several other journals.

“Opening up these new parts of the genome, we think there will be genetic variation contributing to many different traits and disease risk,” said Rajiv McCoy, an assistant professor in the university’s Department of Biology in the Krieger School of Arts and Sciences, whose research focuses on human genetics and evolution.

The study found that because the previous model, known as the reference genome, was a composite of multiple individuals’ genomes essentially “stitched together,” it created artificial “seams” where the model switches from the genome of one person to another. The new, complete version eliminates those seams and is more representative of what an individual’s actual genome looks like.

Being able to track changes over time in these newly accessible genome regions will allow researchers to make more rigorous comparisons from one generation to the next, of people of different origins, or from species to species.