De Novo Mutations Reflect Development and Aging of the Human Germline

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Title:	De Novo Mutations Reflect Development and Aging of the Human Germline
Author(s):	Goldmann, J.M. ; Veltman, J.A. ; Gilissen, C.F.
Publication year:	2019
Source:	Trends in Genetics, vol. 35, iss. 11, (2019), pp. 828-839
ISSN:	0168-9525
DOI:	https://doi.org/10.1016/j.tig.2019.08.005
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/215596
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Subject:	Radboudumc 6: Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Organization:	Human Genetics
Journal title:	Trends in Genetics
Volume:	vol. 35
Issue:	iss. 11
Page start:	p. 828
Page end:	p. 839
Abstract:	Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of parent-offspring trios has facilitated the large-scale detection and study of human DNMs, which has led to exciting discoveries. The overarching theme of all of these studies is that the DNMs of an individual are a complex mixture of mutations that arise through different biological processes acting at different times during human development and life.