Existing benchmark datasets for use in evaluating variant-calling accuracy are constructed from a consensus of known short-variant callers, and they are thus biased toward easy regions that are accessible by these algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two fully homozygous human cell lines, which provides a relatively more accurate and less biased estimate of small-variant-calling error rates in a realistic context.

中文翻译：

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用于准确变异识别评估的合成二倍体基准

用于评估变体调用准确性的现有基准数据集是根据已知短变体调用者的共识构建的，因此它们偏向于这些算法可访问的简单区域。我们从两个完全纯合的人类细胞系的 de novo PacBio 组装中得出了一个新的基准数据集，它为现实环境中的小变异调用错误率提供了相对更准确且偏差较小的估计。