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Journal article

Prevalence and architecture of de novo mutations in developmental disorders

Abstract:

Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novomutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with another 3,287 individuals with similar disorders. We show that the most significant factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and p...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/nature21062

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Institution:
University of Oxford
Oxford college:
St Cross College
Role:
Author
Medical Research Council More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Journal website
Publication date:
2017-01-01
Acceptance date:
2016-12-15
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Source identifiers:
673078
Keywords:
Pubs id:
pubs:673078
UUID:
uuid:283052bd-c14c-4e56-8694-64b6012f6c7f
Local pid:
pubs:673078
Deposit date:
2017-01-25

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