In
genome-wide association studies, genome-wide significance (abbreviated GWS) is a specific threshold for determining the
statistical significance
In statistical hypothesis testing, a result has statistical significance when it is very unlikely to have occurred given the null hypothesis (simply by chance alone). More precisely, a study's defined significance level, denoted by \alpha, is the p ...
of a reported
association between a given
single-nucleotide polymorphism (SNP) and a given
trait. The most commonly accepted threshold is
''p'' < 5 × 10
−8, which is based on performing a
Bonferroni correction for all the independent common SNPs across the
human genome. If a ''p''-value is found to be lower than this threshold in a genome-wide association study, the
null hypothesis of no true SNP-association will typically be rejected. However, there has been some criticism of this threshold, with a 2012 study suggesting that a significant number of associations with ''p''-values just above this threshold are genuine, replicable associations. The authors of this study concluded that their finding "...suggests a possible relaxation in the current GWS threshold." More recently, it has been suggested that the conventional threshold should be modified to take into account the increasing prevalence of low-
frequency genetic variants in genome-wide association studies.
References
Statistical genetics
Statistical hypothesis testing
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