Human disease genes: patterns and predictions.

@article{Smith2003HumanDG,
  title={Human disease genes: patterns and predictions.},
  author={Nick G. C. Smith and Adam Eyre-Walker},
  journal={Gene},
  year={2003},
  volume={318},
  pages={
          169-75
        }
}
We compared genes at which mutations are known to cause human disease (disease genes) with other human genes (nondisease genes) using a large set of human-rodent alignments to infer evolutionary patterns. Such comparisons may be of use both in predicting disease genes and in understanding the general evolution of human genes. Four features were found to differ significantly between disease and nondisease genes, with disease genes (i) evolving with higher nonsynonymous/synonymous substitution… CONTINUE READING
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