Over the last decade, genome-wide association studies of psychiatric disorders have identified numerous significant loci. Whereas these studies initially depended on cohorts ascertained for specific disorders, there has been a gradual shift in the ascertainment strategy toward population-based cohorts for which both genotype and heterogeneous phenotypic information are available. One of the advantages of population-based cohorts is that, in addition to clinical diagnoses and various proxies for diagnoses (‘minimal phenotyping’), many of them also provide non-clinical phenotypes, including putative endophenotypes, that can be used to study domains of normal function in addition to, or instead of, clinical diagnoses. By studying endophenotypes it is possible to both dissect psychiatric disorders (‘splitting’) and to combine multiple phenotypes (‘clumping’), which can either reinforce or challenge traditional diagnostic categories. Such endophenotypes may also permit a deeper exploration of the neurobiology of psychiatric disorders. A coordinated effort to fully exploit the potential of endophenotypes is overdue.

在过去的十年中，精神疾病的全基因组关联研究已经确定了许多重要的位点。虽然这些研究最初依赖于确定特定疾病的队列，但确定策略已逐渐转向基于人群的队列，这些队列的基因型和异质表型信息都可用。基于人群的队列的优点之一是，除了临床诊断和诊断的各种代理（“最小表型”）之外，其中许多还提供非临床表型，包括假定的内表型，可用于研究领域除了临床诊断之外或代替临床诊断，具有正常功能。通过研究内表型，可以剖析精神疾病（“分裂”）并组合多种表型（“聚集”），这可以强化或挑战传统的诊断类别。这种内表型也可能允许对精神疾病的神经生物学进行更深入的探索。早就应该采取协调一致的努力来充分利用内表型的潜力。