Candidate genes and single nucleotide polymorphisms (SNPs) in the study ofhuman disease

The genomic revolution has generated an extraordinary resource, the catalog of variation within the human genome, for investigating biological, evolut ionary and medical questions. Together with new, more efficient platforms f or high-throughput genotyping, it is possible to begin to dissect genetic c ontributions to complex trait diseases, specifically examining common varia nts, such as the single nucleotide polymorphism (SNP). At the same time, th ese tools will make it possible to identify determinants of disease with th e expectation of eventually, tailoring therapies based upon specific profil es. However, a number of methodological, practical and ethical issues must be addressed before the analysis of genetic variation becomes a standard of clinical medicine. The currents of variation in human biology are reviewed here, with a specific emphasis on future challenges and directions.