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Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

Abstract:

The extent to which low‐frequency (minor allele frequency (MAF) between 1–5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants1,2,3,4,5,6,7,8, as well as rare, population‐specific, coding variants9. Here we identify novel non‐coding genetic variants with large effects on BM...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/nature14878

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Publisher:
Nature Publishing Group
Journal:
Nature More from this journal
Volume:
526
Issue:
7571
Pages:
112-117
Publication date:
2015-09-14
Acceptance date:
2015-06-30
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Language:
English
Pubs id:
pubs:571273
UUID:
uuid:ebad5047-41db-45b7-977f-325a13d561b0
Local pid:
pubs:571273
Source identifiers:
571273
Deposit date:
2016-03-02

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