Article
<i>De novo</i> assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
2020-12-16
Abstract excerpt
Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent–child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average contig N50: 26 Mbp) integrate all forms of genetic variation across even complex loci such as the major histocompatibili...
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Identifiers and source
- Literature Corpus work
- 2524106c-f97e-5fa2-bd77-c27a39bb58c0
- DOI
- 10.1101/2020.12.16.423102