Testing for Hardy-Weinberg Equilibrium (HWE) is an important component in almost all analyses of population genetic data. Genetic markers that violate HWE are often treated as special cases; for example, they may be flagged as possible... Testing for Hardy-Weinberg equilibrium (HWE) is an important component in almost all analyses of population genetic data. Genetic markers that violate HWE are often treated as special cases; for example, they may be flagged as possible genotyping errors, or they may be investigated more closely for evolutionary signatures of interest. The presence of population structure is one reason why genetic markers may fail a test of HWE. This is problematic because almost all natural populations studied in the modern setting show some degree of structure. Therefore, it is important to be able to detect deviations from HWE for reasons other than structure. To this end, we extend statistical tests of HWE to allow for population structure, which we call a test of "structural HWE." Additionally, our new test allows one to automatically choose tuning parameters and identify accurate models of structure. We demonstrate our approach on several important studies, provide theoretical justification for the test, and present empirical evidence for its utility. We anticipate the proposed test will be useful in a broad range of analyses of genome-wide population genetic data.

中文翻译：

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将 Hardy-Weinberg 平衡检验扩展到结构化群体。

哈迪-温伯格平衡 (HWE) 测试是几乎所有群体遗传数据分析的重要组成部分。违反 HWE 的遗传标记通常被视为特殊情况；例如，它们可能被标记为可能... 哈迪-温伯格平衡 (HWE) 测试是几乎所有群体遗传数据分析的重要组成部分。违反 HWE 的遗传标记通常被视为特殊情况；例如，它们可能被标记为可能的基因分型错误，或者可能会更仔细地研究它们以获取感兴趣的进化特征。群体结构的存在是遗传标记可能无法通过 HWE 测试的原因之一。这是有问题的，因为在现代环境中研究的几乎所有自然种群都显示出某种程度的结构。因此，能够检测由于结构以外的原因而导致的 HWE 偏差非常重要。为此，我们扩展了 HWE 的统计测试以考虑人口结构，我们称之为“结构性 HWE”测试。此外，我们的新测试允许人们自动选择调整参数并识别准确的结构模型。我们在几项重要研究中展示了我们的方法，为测试提供了理论依据，并为其实用性提供了经验证据。我们预计所提出的测试将有助于对全基因组群体遗传数据进行广泛的分析。