The origins, determinants, and consequences of human mutations

  title={The origins, determinants, and consequences of human mutations},
  author={Jay Shendure and Joshua M. Akey},
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
Highly Cited
This paper has 265 citations. REVIEW CITATIONS

From This Paper

Figures, tables, and topics from this paper.


Publications citing this paper.
Showing 1-10 of 32 extracted citations

266 Citations

Citations per Year
Semantic Scholar estimates that this publication has 266 citations based on the available data.

See our FAQ for additional information.


Publications referenced by this paper.

Younger fathers Older fathers Simulations Late Early Distance from mutation (Mb) Paternal age

  • J. C. Roach
  • Science
  • 2010
1 Excerpt

Similar Papers

Loading similar papers…