Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Decoding germline de novo point mutations

Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs.

Your institute does not have access to this article

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

Figure 1: Gametogenesis differs in females and males.

Marina Coral Spence/Nature Publishing Group

References

  1. Goldmann, J.M. et al. Nat. Genet. 48, 935–939 (2016).

    CAS  Article  PubMed  Google Scholar 

  2. Kong, A. et al. Nature 488, 471–475 (2012).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  3. Crow, J.F. Nat. Rev. Genet. 1, 40–47 (2000).

    CAS  Article  PubMed  Google Scholar 

  4. Genome of the Netherlands Consortium. Nat. Genet. 47, 822–826 (2015).

  5. Rahbari, R. et al. Nat. Genet. 48, 126–133 (2016).

    CAS  Article  PubMed  Google Scholar 

  6. Gao, Z. et al. PLoS Biol. 14, e1002355 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Vogelstein, B. et al. Science 339, 1546–1558 (2013).

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Goriely, A. & Wilkie, A.O.M. Am. J. Hum. Genet. 90, 175–200 (2012).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  9. Helleday, T., Eshtad, S. & Nik-Zainal, S. Nat. Rev. Genet. 15, 585–598 (2014).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Anne Goriely.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Goriely, A. Decoding germline de novo point mutations. Nat Genet 48, 823–824 (2016). https://doi.org/10.1038/ng.3629

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.3629

Further reading

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing