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The Human Pangenome: A Step Towards More Inclusive Genomic Medicine

A recent report in Nature by the Human Pangenome Reference Consortium (HPRC) makes the first draft of the human pangenome publicly available. The pangenome is assembled from a cohort of 47 genetically diverse individuals to better represent the breadth of human genetic diversity and address the ethical, legal, and social ramifications of the human genome project. 

This publication also highlights the use of new bioinformatics methods that replaced the traditional linear reference genome system with a pangenomic system based on graph data structures that represent the sequences of many people simultaneously. Genomes reconstructed based on the conventional consensus reference model can often appear to be more similar to the reference than they are because of inherent bias in the consensus reference. The new pangenomic reference system can reduce inherent bias in the traditional approach by constructing a new genome related to all the diverse genomes represented in the pangenome. 

The Human Pangenome Reference Consortium reports that the pangenome will be expanded to include a diverse cohort of 350 individuals, to include telomere-2-telomere genomes, and to refine the pangenomic alignment systems to achieve the goal of building a more inclusive and global human reference genome. The availability of a more complete and diverse human pangenome combined with artificial intelligence to analyze the new data will certainly stimulate rapid development of genomic medicine.

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. A richer human reference map promises to improve our understanding of genomics and our ability to predict, diagnose, and treat disease. A more diverse human reference map should also help ensure that the eventual applications of genomic research and precision medicine are effective for all populations. We recognize that the value of this project will partly be in the future establishment of new standards for how we capture variant diversity, the opportunity to disseminate science into diverse communities, and continued efforts to engage with diverse voices in this ambitious goal to build a common global reference resource.


innovative technology, pangenome, genomic diversity, artificial intelligence, precision medicine