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Take home messages
Exome and genome sequencing revolutionized the field of medical genetics for disease gene identification
De novo mutations caused a paradigm shift in our understanding of reproductively lethal disorders
De novo mutations are mostly of paternal origin, and the number thereof increases with advanced paternal age
Role of somatic and non‐coding de novo mutations in disease largely unexplored
De novo mutations may play an important role in the genetics of (male) infertility
Acknowledgements
Dept of Human Genetics Radboudumc
Newcastle University
Harsh Sheth Ludmila Volozonoka Kumara Mastrorosa Bilal Alobaidi
Kevin McEleny
Jon Coxhead
Joris Veltman
Christian Gilissen Stefan Lelieveld Jakob Goldmann Alex Hoischen
Djie Tjwan Thung Jayne Hehir‐Kwa Maartje van de Vorst Petra de Vries Erik‐Jan Kamsteeg Michael Kwint
Rolph Pfundt Michaela Fenckova Helger IJntema
Rocio Acuna‐Hidalgo Manon Oud
Dorien Lugtenberg Margot Reijnders Sandra Jansen
Tan Bo
Joep de Ligt
Anneke Schenck Marjolein Willemsen Bregje van Bon Tjitske Kleefstra
Bert de Vries
Han Brunner
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