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Bioinformatics (Oxford, England) DOI:10.1093/bioinformatics/btt609

Fast Pairwise IBD Association Testing in Genome-wide Association Studies.

Publication TypeJournal Article
Year of Publication2013
AuthorsHan, B, Kang, EY, Raychaudhuri, S, de Bakker, PI, Eskin, E
JournalBioinformatics (Oxford, England)
Date Published2013/10/24

Recently, investigators have proposed state-of-the-art Identity-by-descent (IBD) mapping methods to detect IBD segments between purportedly unrelated individuals. The IBD information can then be used for association testing in genetic association studies. One approach for this IBD association testing strategy is to test for excessive IBD between pairs of cases ("pairwise method"). However, this approach is inefficient because it requires a large number of permutations. Moreover, a limited number of permutations define a lower bound for p-values which makes fine-mapping associated regions difficult, because in practice a much larger genomic region is implicated than the region that is actually associated.