These resources have driven disease gene discovery in the first generation of genome wide association studies (GWAS), wherein genotypes at several hundred thousand variant sites, combined with the knowledge of LD structure, allow the vast majority of common variants (here, those with > 5% minor allele frequency, or MAF) to be tested for association4 with disease. Over the last five years association studies have identified more than a thousand genomic regions associated with disease susceptibility and other common traits5. Genome wide collections of both common and rare SVs have similarly been tested for association with disease6.
