MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y.
Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.
详细的表型分析对于深入了解遗传关联背后的生物学机制至关重要。此外，潜在可调节风险因素对疾病的影响需要能够进行因果推断的分析框架。在这里，我们讨论了基于基因型召回（RbG）的研究设计的特点，该设计旨在满足这两方面的需求。我们描述了 RbG 在两种广泛应用场景下的应用：使用单一变异和使用多个变异的研究。我们考虑了 RbG 方法的有效性和实用性，提供了一个英国此类研究资源的目录，并展示了一个在线 RbG 研究规划器。
