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Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

The American Journal of Human Genetics · 2012 · Vol. 91(2) · pp. 224–237

Seunggeun Lee(Harvard University)Mary J. Emond(University of Washington)Michael J. Bamshad(University of Washington)Kathleen C. Barnes(Johns Hopkins University)Mark J. Rieder(University of Washington)Deborah A. Nickerson(University of Washington)David C. Christiani(Harvard University)Mark M. Wurfel(University of Washington)Xihong Lin✉(Harvard University)

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Genetic Associations and Epidemiology Genomics and Rare Diseases Genomic variations and chromosomal abnormalitiesType I and type II errorsExome sequencingSample size determinationAssociation testExomeGenetic associationComputer scienceAssociation (psychology)Statistical powerComputational biology

MeSH terms

Computer SimulationData Interpretation, StatisticalHumansModels, GeneticGenetic VariationCase-Control StudiesSequence Analysis, DNARare DiseasesGenetic Association StudiesExome

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