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Journal article

Resolving the variable genome and epigenome in human disease.

Abstract:

The individual human genome and epigenome are being defined at unprecedented resolution by current advances in sequencing technologies with important implications for human disease. This review uses examples relevant to clinical practice to illustrate the functional consequences of genetic and epigenetic variation. The insights gained from genome-wide association studies are described together with current efforts to understand the role of rare variants in common disease, set in the context o...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Journal:
Journal of internal medicine
Volume:
271
Issue:
4
Pages:
379-391
Publication date:
2012-04-05
DOI:
EISSN:
1365-2796
ISSN:
0954-6820
URN:
uuid:ed20175e-a86b-4d88-9daf-6b7cdd59a49e
Source identifiers:
320400
Local pid:
pubs:320400

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