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Decoding germline de novo point mutations

Nature Genetics volume 48, pages 823–824 (2016)Cite this article

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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.

Mutations are the source of all sequence variation in the human genome. Considering how important they are to species evolution and disease, it is surprising how little is known about the mechanisms controlling the occurrence and molecular spectrum of mutations, or even the rate at which they are introduced in the genome. A study of the largest set of germline de novo point mutations available so far, reported by Christian Gilissen, John Niederhuber and colleagues1 in this issue, makes some strides toward bridging this gap in knowledge.

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Figure 1: Gametogenesis differs in females and males.

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  1. Anne Goriely is at the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.,

    Anne Goriely

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  1. Anne Goriely
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Correspondence to Anne Goriely.

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

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