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Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Abstract:

Understanding the role of rare variants is important in elucidating the genetic basis of human disease. Negative selection can cause rare variants to have larger per-allele effect sizes than common variants. Here, we develop a method to estimate the minor allele frequency (MAF) dependence of SNP effect sizes. We use a model in which per-allele effect sizes have variance proportional to [p(1 - p)]α, where p is the MAF and negative values of α imply larger effect sizes for rare variants. We est...

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Publication status:
Published
Peer review status:
Peer reviewed

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Role:
Author
ORCID:
0000-0001-9312-9513
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Role:
Author
ORCID:
0000-0002-5318-8225
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Role:
Author
ORCID:
0000-0001-5542-9064
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Role:
Author
ORCID:
0000-0003-4510-5730
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Role:
Author
ORCID:
0000-0003-2730-9668
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Name:
Medical Research Council
Grant:
MC_QA137853
Publisher:
Nature Research
Journal:
Nature Communications More from this journal
Volume:
10
Article number:
790
Publication date:
2019-02-15
Acceptance date:
2019-01-09
DOI:
EISSN:
2041-1723
Pmid:
30770844
Language:
English
Keywords:
Pubs id:
pubs:974885
UUID:
uuid:6169674d-26ae-465a-87de-faeecd2059c1
Local pid:
pubs:974885
Source identifiers:
974885
Deposit date:
2019-05-24

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