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Many genome‐wide association studies (GWAS) have signals with unknown etiology. This paper addresses the question—is such an association signal caused by rare or common variants that lead to increased disease risk? For a genomic region implicated by a GWAS, we use single nucleotide polymorphism (SNP) data in a case‐control setting to predict how many common or rare variants there are, using a Bayesian...
Analysis of rare variants is currently a major focus of genetic studies of human disease. Single‐nucleotide polymorphism (SNP) genotypes can be assayed using microarray genotyping or by sequencing, but neither technology produces perfect genotype calls, especially at rare SNPs. Studies that collect both types of data are becoming increasingly common, so it may be possible to combine data types to...
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