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Fine mapping versus replication in whole-genome association studies.


ABSTRACT: Association replication studies have a poor track record and, even when successful, often claim association with different markers, alleles, and phenotypes than those reported in the primary study. It is unknown whether these outcomes reflect genuine associations or false-positive results. A greater understanding of these observations is essential for genomewide association (GWA) studies, since they have the potential to identify multiple new associations that that will require external validation. Theoretically, a repeat association with precisely the same variant in an independent sample is the gold standard for replication, but testing additional variants is commonplace in replication studies. Finding different associated SNPs within the same gene or region as that originally identified

SUBMITTER: Clarke GM 

PROVIDER: S-EPMC2265650 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature