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Complex genetic variation in nearly complete human genomes

Nature, Published online: 23 July 2025; doi:10.1038/s41586-025-09140-6

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

A draft human pangenome reference

Nature, Published online: 10 May 2023; doi:10.1038/s41586-023-05896-x

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.
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