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Finding rare variants and gene–environment interactions (GXE) is critical in dissecting complex diseases. We consider the problem of detecting GXE where G is a rare haplotype and E is a nongenetic factor. Such methods typically assume G‐E independence, which may not hold in many applications. A pertinent example is lung cancer—there is evidence that variants on Chromosome 15q25.1 interact with smoking...
Summary Rare variants have been heralded as key to uncovering “missing heritability” in complex diseases. These variants can now be genotyped using next‐generation sequencing technologies; nonetheless, rare haplotypes may also result from combination of common single nucleotide polymorphisms available from genome‐wide association studies (GWAS). The National Eye Institute’s data on age‐related macular...
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