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Approaches for establishing the function of regulatory genetic variants involved in disease.

Abstract:

The diversity of regulatory genetic variants and their mechanisms of action reflect the complexity and context-specificity of gene regulation. Regulatory variants are important in human disease and defining such variants and establishing mechanism is crucial to the interpretation of disease-association studies. This review describes approaches for identifying and functionally characterizing regulatory variants, illustrated using examples from common diseases. Insights from recent advances in ...

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Publication status:
Published

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Publisher copy:
10.1186/s13073-014-0092-4

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Publisher:
BioMed Central Ltd.
Journal:
Genome medicine
Volume:
6
Issue:
10
Pages:
92
Publication date:
2014
DOI:
EISSN:
1756-994X
ISSN:
1756-994X
URN:
uuid:93732b47-0d9c-48e6-8db2-9a73da9f46de
Source identifiers:
492129
Local pid:
pubs:492129
Language:
English

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