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 minimum contig length needed to cover 50% of the genome: 26 million base pairs) integrate all forms of genetic variation, even across complex loci. We identified 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing, and 278 SV hotspots (spanning megabases of gene-rich sequence). We characterized 130 of the most active mobile element source elements and found that 63% of all SVs arise through homology-mediated mechanisms. This resource enables reliable graph-based genotyping from short reads of up to 50,340 SVs, resulting in the identification of 1526 expression quantitative trait loci as well as SV candidates for adaptive selection within the human population.

长读长和链特异性测序技术共同促进了高质量单倍型分辨人类基因组的从头组装，而无需亲子三人组数据。我们展示了来自 32 个不同人类基因组的 64 个组装单倍型。这些高度连续的单倍型组装（覆盖 50% 基因组所需的平均最小重叠群长度：2600 万个碱基对）整合了所有形式的遗传变异，甚至跨越复杂的基因座。我们鉴定了 107,590 个结构变体 (SV)，其中 68% 不是通过短读测序发现的，以及 278 个 SV 热点（跨越基因丰富序列的兆碱基）。我们对 130 个最活跃的移动元素源元素进行了表征，发现 63% 的 SV 是通过同源性介导的机制产生的。该资源可对多达 50,340 个 SV 的短读长进行可靠的基于图的基因分型，