They call it the pangenome: a new type of human genome that takes a more genetically diverse approach than the first human genome, released for research purposes about 20 years ago. This new model includes a breadth of diversity drawn from 47 people across Africa, Asia, the Caribbean and beyond.

The existing reference genome is used for most analytical studies and that leads to a bias, says Guillaume Bourque, a professor who serves as the Director of Bioinformatics at the McGill University Genome Centre in Canada.

“We might miss important things happening in regions of the human genome that are not present in the reference,” he explains. That has implications for a number of science and biomedical priorities, like developing genetically based and targeted medical treatments for people in specific populations.

A discussion of the work, from a large group of global scientists, was published in the journal Nature. In an example drawn from related research, published in Cell Genomics, the scientists note how it demonstrates the ways that the body’s responses to influenza infection differ on the basis of genetic makeup. It also figures into McGill research on next-generation RNA medicines to treat infection, as well as cancer and rare diseases.

“The full implications of this new genetic reference tool remain to be determined since scientists can now study regions of the human genome that they couldn’t explore before,” said the university in a statement. “Understanding their potential function and consequence will be the work of hundreds of groups for years to come.”

Image: McGill University