Much effort in current human genomics, epidemiology and pharmacogenomics is focused on the identification of genetic variations that are responsible for common and complex diseases. Specifically, single nucleotide polymorphisms (SNPs), which are substitutions of a single nucleotide at a specific position on the genome, are in the forefront of such studies, as they form the majority of genetic variations in the human population. Reliable identification of disease-causing SNPs is expected to enable early diagnosis, personalized treatment and targeted drug design.
