Induced pluripotent stem cells (iPSCs) are powerful tools for investigating the relationship between genotype and phenotype. Recent publications have described iPSC cohort studies of common genetic variants and their effects on gene expression and cellular phenotypes. These in vitro quantitative trait locus (QTL) studies are the first experiments in a new paradigm with great potential: iPSC-based functional population genetic studies. iPSC collections from large cohorts are currently under development to facilitate the next wave of these studies, which have the potential to discover the effects of common genetic variants on cellular phenotypes and to uncover the molecular basis of common genetic diseases. Here, we describe the recent advances in this developing field, and provide a road map for future in vitro functional population genetic studies and trial-in-a-dish experiments.

诱导多能干细胞（iPSC）是研究基因型和表型之间关系的有力工具。最近的出版物描述了常见遗传变异及其对基因表达和细胞表型的影响的iPSC队列研究。这些体外定量性状基因座（QTL）研究是具有巨大潜力的新范例中的第一个实验：基于iPSC的功能群体遗传研究。目前正在开发来自大型队列研究的iPSC集合，以促进这些研究的下一波发展，这些研究有可能发现常见遗传变异对细胞表型的影响，并揭示常见遗传疾病的分子基础。在这里，我们描述了这个发展中领域的最新进展，并提供了未来的路线图体外功能种群遗传研究和盘中试验。