Scientists Release First Human Genome Map

On May 10, 2023, the Human Pangenome Reference Consortium published in Nature the first human pangenome reference, replacing the single linear reference genome (GRCh38, used since 2013) with a graph-based pangenome assembled from 47 genetically diverse individuals. The pangenome captures structural variation systematically erased by the single-individual reference, especially in non-European ancestries. Lead authors included Wen-Wei Liao and Karen Miga at the University of California Santa Cruz. The consortium goal is to expand the reference to 350 individuals by 2024, providing more equitable genomic medicine across diverse populations.