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Journal article

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.

Abstract:

Initial results from sequencing studies suggest that there are relatively few low-frequency (<5%) variants associated with large effects on common phenotypes. We performed low-pass whole-genome sequencing in 680 individuals from the InCHIANTI study to test two primary hypotheses: (i) that sequencing would detect single low-frequency-large effect variants that explained similar amounts of phenotypic variance as single common variants, and (ii) that some common variant associations could be ...

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Publisher copy:
10.1093/hmg/ddu560

Authors


Hernandez, D More by this author
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Journal:
Human molecular genetics
Publication date:
2014-11-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:aa8fd4f1-041f-452d-a74a-aba0292358f1
Source identifiers:
489637
Local pid:
pubs:489637
Language:
English

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