Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations. By comparing k-mers in a de novo assembly to those found in unassembled high-accuracy reads, Merqury estimates base-level accuracy and completeness. For trios, Merqury can also evaluate haplotype-specific accuracy, completeness, phase block continuity, and switch errors. Multiple visualizations, such as k-mer spectrum plots, can be generated for evaluation. We demonstrate on both human and plant genomes that Merqury is a fast and robust method for assembly validation.

中文翻译：

---

Merqury：基因组组装的无参考质量、完整性和定相评估


最近的长读长组装通常超出了可用参考基因​​组的质量和完整性，这使得验证具有挑战性。在这里，我们介绍 Merqury，一种基于高效 k-mer 集操作的无参考组装评估的新颖工具。通过将从头组装中的 k-mers 与未组装的高精度读数中的 k-mers 进行比较，Merqury 估计了基本水平的准确性和完整性。对于三重奏，Merqury 还可以评估单倍型特异性的准确性、完整性、相块连续性和开关错误。可以生成多种可视化效果（例如 k 聚体谱图）以进行评估。我们在人类和植物基因组上证明，Merqury 是一种快速、稳健的组装验证方法。