Whilst thousands of genetic variants have been associated with human traits, identifying the subset of those variants that are causal requires a further ‘fine-mapping’ step. We review the basic fine-mapping approach, which is computationally fast and requires only summary data, but depends on an assumption of a single causal variant per associated region which is recognized as biologically unrealistic. We discuss different ways that the approach has been built upon to accommodate multiple causal variants in a region and to incorporate additional layers of functional annotation data. We further review methods for simultaneous fine-mapping of multiple datasets, either exploiting different linkage disequilibrium (LD) structures across ancestries or borrowing information between distinct but related traits. Finally, we look to the future and the opportunities that will be offered by increasingly accurate maps of causal variants for a multitude of human traits.

中文翻译：

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精细映射遗传关联。

虽然数以千计的遗传变异与人类特征相关，但识别这些变异的子集需要进一步的“精细映射”步骤。我们回顾了基本的精细映射方法，该方法计算速度快，只需要汇总数据，但依赖于每个相关区域的单个因果变量的假设，这在生物学上被认为是不切实际的。我们讨论了构建该方法的不同方式，以适应一个区域中的多个因果变体，并结合额外的功能注释数据层。我们进一步回顾了同时对多个数据集进行精细映射的方法，要么利用祖先之间的不同连锁不平衡 (LD) 结构，要么在不同但相关的特征之间借用信息。最后，