Haplotype-aware diploid genome assembly is crucial in genomics, precision medicine, and many other disciplines. Long-read sequencing technologies have greatly improved genome assembly. However, current long-read assemblers are either reference based, so introduce biases, or fail to capture the haplotype diversity of diploid genomes. We present phasebook, a de novo approach for reconstructing the haplotypes of diploid genomes from long reads. phasebook outperforms other approaches in terms of haplotype coverage by large margins, in addition to achieving competitive performance in terms of assembly errors and assembly contiguity.

中文翻译：

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相簿：从长读数中对二倍体基因组进行单倍型感知的从头组装

单倍型感知二倍体基因组组装在基因组学、精准医学和许多其他学科中至关重要。长读长测序技术极大地改进了基因组组装。然而，当前的长读长组装器要么是基于参考的，因此引入了偏差，要么无法捕获二倍体基因组的单倍型多样性。我们提出了phasebook，这是一种从长读长重建二倍体基因组单倍型的从头方法。除了在装配错误和装配连续性方面实现竞争性能外，Phasebook 在单倍型覆盖方面远远优于其他方法。