Large-scale genome-wide association studies that capitalize on
vast numbers of study subjects and single nucleotide
polymorphisms (SNPs) provide a powerful approach for
identifying qualitative trait loci and disease susceptibility
genes of complex diseases. However, such studies entail high
costs due to intensive individual genotyping experiments
involving the large numbers of study subjects and genetic
markers. A cost-effective solution is to screen for human
disease susceptibility genes using pooled DNA allelotyping
combined with SNP arrays. Potentially important SNP marker sets
identified by this initial screen are further examined by a
subsequent confirming association study and a biological
function study. This cutting-edge approach has been broadly
evaluated and applied successfully to recent practical
genetic/genomic studies. Here we provide an overview of recent
methods/applications development in this area. We describe and
discuss the study background and rationale, data attributes and
analysis procedures, related resources for databases and
software, strengths and limitations, and potential future
research directions.