CCRaVAT / QuTie
CCRaVAT (Case-Control Rare Variant Analysis Tool) & QuTie (Quantitative Trait)allow the large-scale analysis of low MAF polymorphisms by pooling rare variants within defined regions and treating them as a single ‘super-locus’. This method helps identify regions that contain a significantly higher proportion of rare minor alleles in the disease cases or controls, or within groups of individuals with significantly different quantitative trait means. Collapsing multiple rare minor alleles into a single locus across pre-defined regions (either genes or sliding windows of defined sequence length) can substantially increase power for detecting association
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CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies.
Lawrence R, Day-Williams AG, Elliott KS, Morris AP and Zeggini E