The origins, determinants, and consequences of human mutations

@article{Shendure2015TheOD,
  title={The origins, determinants, and consequences of human mutations},
  author={Jay Shendure and Joshua M. Akey},
  journal={Science},
  year={2015},
  volume={349},
  pages={1478-1483}
}
Germline mutations are the principal cause of heritable disease and the ultimate source of evolutionary change. Similarly, somatic mutations are the primary cause of cancer and may contribute to the burden of human disease more broadly than previously appreciated. Here, we review recent insights into the rates, spectrum, and determinants of genomic mutations and how these parameters inform our understanding of both Mendelian and complex human diseases. We also consider models for… CONTINUE READING
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Younger fathers Older fathers Simulations Late Early Distance from mutation (Mb) Paternal age

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