The genotype-calling framework instantiated in Birdsuite and the new release of PLINK supports sensitive, high-resolution identification of CNVs, estimates of SNP and CNP allele frequencies, and tests of association with phenotype. When combined with higher-density hybrid arrays and maps of genome variation at lower frequencies and in more diverse samples (see URLs section in Methods) it should soon be possible to undertake a next generation of genome-wide association studies that provide unbiased, phenotype-driven genome screens for a deeper and more detailed examination of the role of DNA variation in human disease.
