Article
Complex genetic variation in nearly complete human genomes
2024-09-25
Abstract excerpt
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here, we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (130 Mbp median continuity), closing 92% of all previous assembly gaps and reaching telomere-to-telomere (T2T) status for 39% of the chromosomes. We highlight complete sequence cont...
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Identifiers and source
- Literature Corpus work
- 9fa4184a-9792-5e9b-9fa5-6e06dc7f3a1d
- DOI
- 10.1101/2024.09.24.614721