An international consortium of scientists has launched a new effort to create a reference genome that captures the genetic diversity of all the peoples of the world. The researchers describe the initiative, called the Human Pangenome Project, in a paper published Wednesday, April 20, in the journal Nature.
“The goal is to collect, organize and make accessible a representation of all the genetic variation that exist in humans, big, small, common and rare,” said Evan Eichler, a professor of genome sciences at the University of Washington School of Medicine in Seattle and a co-author of the paper.
More than a dozen research institutions are collaborating on the international project. The effort is funded by the U.S. National Human Genome Research Institute and National Institutes of Health.
The human genome consists of sequence of 3.1 billion DNA molecules. Overall, our genomes are remarkably similar. But small differences in the sequences of our genomic DNA play a large role in determining what makes each individual unique, including his or her risk for disease.
A reference genome helps describe those differences by mapping the location of genes and other elements of the genome. Researchers use this map to identify new genes, variants of known genes and other functional elements, and to share and compare their findings with other scientists.
