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Building a human ‘pangenome’ to capture global genomic diversity

The human reference genome is the most widely used resource in genetic research, yet it is anything but representative of the global human population. More than 65% of the sequence comes from the DNA of a single individual and the rest is a mosaic of genomic data from about 20 others.

Hundreds of scientists are now embarking on a major effort to change that. The Human Pangenome Reference Consortium (HPRC), a group of researchers at various academic institutions, aims to assemble a collection of whole genome sequences from hundreds of individuals and issue a pangenome that reflects the full range of the diversity of the human species. Detailing their approach in Nature, the HPRC group plans to initially sequence 350 individuals from diverse backgrounds.

The release of the first draft of the human genome more than two decades ago was a landmark achievement. But even after 20 years of updates, the human reference genome still contains errors and gaps. The new effort, funded by the National Institutes of Health, comes on the heels of the recent completion of the human genome earlier this year, in which an international team of scientists successfully resolved the remaining pieces of DNA and issued an updated reference genome. The techniques developed for this work will now be used to assemble high-quality sequences from many more individuals.

A human pangenome reference will constitute a major update to the references that are currently used by researchers worldwide. Mostly based on individuals of European ancestry, these references have been found to be limited, and may be missing DNA sequences found in other populations. A pangenome reference that is inclusive of human diversity will improve researchers’ ability to identify rare or population-specific genetic variations, study gene–disease associations, and expand personalized medicine.

“The original Human Genome Project enabled major advances in human health and genomic medicine,” says Erich Jarvis, a neuroscientist at The Rockefeller University and one of the principal investigators on the project. “It is time to build a more inclusive resource with better representation of human genomic diversity to better serve humanity.”