review Open AccessTop 1% cited
Rare-Variant Association Analysis: Study Designs and Statistical Tests
The American Journal of Human Genetics · 2014 · Vol. 95(1) · pp. 5–23
Seunggeung Lee✉(University of Michigan–Ann Arbor)Gonçalo R. Abecasis(University of Michigan–Ann Arbor)Michael Boehnke(University of Michigan–Ann Arbor)Xihong Lin(Harvard University)
Genetic Associations and EpidemiologyGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersTraitGenetic associationHeritabilityPopulation stratificationBiologyGenotypingImputation (statistics)DiseaseComputational biologyGenetics
MeSH terms
GenotypeHumansGenome-Wide Association Study
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References
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The American Journal of Human Genetics · 2013 · 844 citations
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Biometrics · 1999 · 3,224 citations
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 · 1,126 citations
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
PLoS Genetics · 2009 · 1,166 citations
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