Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

@article{Botstein2003DiscoveringGU,
  title={Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease},
  author={David Botstein and Neil Risch},
  journal={Nature Genetics},
  year={2003},
  volume={33 Suppl 1},
  pages={228-237}
}
The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in… 
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