Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans.

Abstract The completion of the Human Genome Project (HGP) in 2003 brought the scientific community one step closer to identifying the genes underlying common, polygenic diseases. Prior to this achievement, the goal of identifying the genetic factors responsible for diseases presenting substantial public health burdens was elusive. Although the theoretical foundation for disease association studies had been discussed before the completion of the HGP, obstacles remained at that time before such studies could be considered feasible. One of these obstacles was the identification and mapping of numerous polymorphisms that could be easily and inexpensively typed. However, this challenge was overcome with the sequencing of the human genome and the subsequent cataloging of single‐nucleotide polymorphisms (SNPs). The challenge then became how to rapidly and cost‐effectively assay a dense set of these SNPs in the large number of samples required for disease association studies of complex traits. This challenge has been recently met as well, with the commercial offering of mass‐throughput oligonucleotide array‐based genotyping platforms at affordable prices. These platforms have made genome‐wide association scans a reality and bring us closer than ever to elucidating the genetic mechanisms of complex disease. Here, we discuss the need for mass‐throughput genotyping and then review and evaluate various platforms now available to investigators wishing to undertake high‐throughput genotyping projects with SNPs, particularly genome‐wide association scans.