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Comment
. 2016 Jul 27;48(8):823-4.
doi: 10.1038/ng.3629.

Decoding germline de novo point mutations

Affiliations
Comment

Decoding germline de novo point mutations

Anne Goriely. Nat Genet. .

Abstract

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.

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Comment on

  • Parent-of-origin-specific signatures of de novo mutations.
    Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544

References

    1. Nat Genet. 2015 Jul;47(7):822-6 - PubMed
    1. Nature. 2012 Aug 23;488(7412):471-5 - PubMed
    1. Am J Hum Genet. 2012 Feb 10;90(2):175-200 - PubMed
    1. Nat Rev Genet. 2014 Sep;15(9):585-98 - PubMed
    1. Nat Genet. 2016 Feb;48(2):126-33 - PubMed

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