![]() ![]() ![]() Roughly 90 million of the additional base pairs are derived from structural variation. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals 1. Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. ![]() Nature volume 617, pages 312–324 ( 2023) Cite this article ![]()
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