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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   https://hdl.handle.net/2066/215596

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Subject: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc
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.

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