Haplotype information is crucial for biomedical and population genetics research. However, current strategies to produce de novo haplotype-resolved assemblies often require either difficult-to-acquire parental data or an intermediate haplotype-collapsed assembly. Here, we present Graphasing, a workflow which synthesizes the global phase signal of Strand-seq with assembly graph topology to produce chromosome-scale de novo haplotypes for diploid genomes. Graphasing readily integrates with any assembly workflow that both outputs an assembly graph and has a haplotype assembly mode. Graphasing performs comparably to trio phasing in contiguity, phasing accuracy, and assembly quality, outperforms Hi-C in phasing accuracy, and generates human assemblies with over 18 chromosome-spanning haplotypes.

中文翻译：

---

绘图：使用单细胞链测序对二倍体基因组组装图进行定相


单倍型信息对于生物医学和群体遗传学研究至关重要。然而，当前产生从头单倍型解析组装的策略通常需要难以获取的亲本数据或中间单倍型折叠组装。在这里，我们介绍了 Graphasing，这是一种将 Strand-seq 的全局相位信号与组装图拓扑合成以产生二倍体基因组染色体尺度的从头单倍型的工作流程。图形化很容易与任何既输出装配图又具有单倍型装配模式的装配工作流程集成。图形化在连续性、定相精度和组装质量方面的表现与 trio 定相相当，在定相精度方面优于 Hi-C，并生成具有超过 18 个染色体跨单倍型的人类组装。