Affiliations: National Cancer Institute, Gaithersburg, MD 20877,
USA
Note: [] M.D., Immunocompromised Host Section, Pediatric Oncology Branch
and The Advanced Technology Center, National Cancer Institute, 8717 Grovemont
Circle, Gaithersburg, MD 20877, USA. Tel.: +1 301 435 7559; Fax: +1 301 402
3134; E-mail:[email protected]
Abstract: The genomic revolution has generated an extraordinary resource, the
catalog of variation within the human genome, for investigating biological,
evolutionary and medical questions. Together with new, more efficient platforms
for high-throughput genotyping, it is possible to begin to dissect genetic
contributions to complex trait diseases, specifically examining common
variants, such as the single nucleotide polymorphism (SNP). At the same time,
these tools will make it possible to identify determinants of disease with the
expectation of eventually, tailoring therapies based upon specific profiles.
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.
