Genome-wide association studies of human diseases have uncovered large numbers of common genetic variants with small effect sizes; however, rare genetic variants with large effect sizes might have greater relevance with respect to disease heritability. The identification and characterization of rare variants—such as those recently discovered in SIAE—is, therefore, likely to be a major endeavor in the field in the coming years.
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The authors would like to thank Dr Marta Alarcon-Riquelme (Oklahoma Medical Research Foundation) for critical reading of the article.
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Satterthwaite, A., Mohan, C. Rare genes for autoimmunity—the new kids on the block. Nat Rev Rheumatol 6, 678–679 (2010). https://doi.org/10.1038/nrrheum.2010.177
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DOI: https://doi.org/10.1038/nrrheum.2010.177