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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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Journal:
Journal of internal medicine
Pages:
no-no
Publication date:
2012-02-01
DOI:
EISSN:
1365-2796
ISSN:
0954-6820
Language:
English
Pubs id:
pubs:432828
UUID:
uuid:89581d46-8553-4e34-b28a-5489f70ea1cc
Local pid:
pubs:432828
Source identifiers:
432828
Deposit date:
2013-11-17

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