The detection of which mutations are occurring on the same DNA molecule is essential to predict their consequences. This can be achieved by phasing the genomic variations. Nevertheless, state-of-the-art haplotype phasing is currently a black box in which the accuracy and quality of the reconstructed haplotypes are hard to assess.

中文翻译：

---

PhaseME：自动快速评估分阶段质量和分阶段改进。


检测同一 DNA 分子上发生的突变对于预测其后果至关重要。这可以通过对基因组变异进行定相来实现。然而，最先进的单倍型定相目前是一个黑匣子，其中重建单倍型的准确性和质量很难评估。