Читать книгу Genetic Analysis of Complex Disease - Группа авторов - Страница 26

The literature on most complex traits is at this point littered with initial reports of allelic or genotypic associations that cannot be replicated at all (or are replicated in a small minority of studies). Reproducibility of findings in independent samples is a critical characteristic most investigators seek when weighing the evidence for a trait‐associated variant. Because of this, most studies (particularly those seeking government or foundation funding) now include a plan for replication of findings in a second dataset. These replication datasets should be independent of the initial finding (e.g. do not overlap with the discovery dataset) and be assessed in similar fashion (e.g. phenotype definitions agree, ascertainment is similar, genetic analysis is comparable). This does not mean that the datasets must be from the same population – indeed, demonstrating replication across populations (e.g. European, Asian, and African) for a common complex trait locus may add strength to the study. However, for rare variants, cross‐population replication might be more difficult (due to population‐specific alleles); for such studies, replication in a second sample from the sample population would be desirable.