Population Perspectives on Genome Variation and Complex Disease

Perhaps the greatest barrier to genomic and personalized medicine is our lack of understanding of the molecular basis of common and complex disease. Which genes influence each phenotype? It is increasingly easy to sequence a human genome and reveal millions of sequence variants, but which sequence variants should we care about, and how much should we care about them? Population-based studies make it possible to evaluate and quantify the relationships of variants to variation in phenotypes. Such studies draw upon the genome variation that exists naturally in human populations, and methodically relate this variation to variation in human phenotypes. The patient, rigorous evaluation of such relationships will create the base of knowledge that will support genomic inference in medicine.