Evaluating coverage of exons by HapMap SNPs

Genome-wide association (GWA) studies are currently one of the most powerful tools in identifying disease-associated genes or variants. In typical GWA studies, single-nucleotide polymorphisms (SNPs) are often used as genetic makers. Therefore, it is critical to estimate the percentage of genetic variations which can be covered by SNPs through linkage disequilibrium (LD). In this study, we use the concept of haplotype blocks to evaluate the coverage of five SNP sets including the HapMap and four commercial arrays, for every exon in the human genome. We show that although some Chips can reach similar coverage as the HapMap, only about 50% of exons are completely covered by haplotype blocks of HapMap SNPs. We suggest further high-resolution genotyping methods are required, to provide adequate genome-wide power for identifying variants.

► We use haplotype blocks to evaluate coverage of SNPs for GWA studies. ► We evaluate the coverage of SNPs from HapMap and four commercial Chips. ► About 50% of exons are not fully covered by haplotype blocks. ► Genome-wide SNPs are not sufficient to tag genome-wide variants.