A draft human pangenome reference
The Human Pangenome Reference Consortium presents a first draft human pangenome built from 47 phased, diploid genome assemblies of genetically diverse individuals. The assemblies cover more than 99% of the expected sequence per genome at over 99% base-level and structural accuracy, and are combined into a graph-based reference. Relative to GRCh38, the pangenome adds about 119 million base pairs of euchromatic polymorphic sequence and 1,115 gene duplications, improving representation of variation at structurally complex loci.