Genetic architecture describes the characteristics of genetic variation that are responsible for heritable phenotypic variability. It depends on the number of genetic variants affecting a trait, their frequencies in the population, the magnitude of their effects and their interactions with each other and the environment. Defining the genetic architecture of a complex trait or disease is central to the scientific and clinical goals of human genetics, which are to understand disease aetiology and aid in disease screening, diagnosis, prognosis and therapy. Recent technological advances have enabled genome-wide association studies and emerging next-generation sequencing studies to begin to decipher the nature of the heritable contribution to traits and disease. Here, we describe the types of genetic architecture that have been observed, how architecture can be measured and why an improved understanding of genetic architecture is central to future advances in the field.

遗传结构描述了导致可遗传表型变异的遗传变异特征。这取决于影响性状的遗传变异的数量、它们在人群中的频率、它们的影响程度以及它们与彼此和环境的相互作用。定义复杂性状或疾病的遗传结构是人类遗传学的科学和临床目标的核心，这些目标是了解疾病病因并帮助疾病筛查、诊断、预后和治疗。最近的技术进步使全基因组关联研究和新兴的下一代测序研究能够开始破译对性状和疾病的遗传贡献的性质。在这里，我们描述了已观察到的遗传结构类型，