Beyond GWASs: illuminating the dark road from association to function

Edwards, Stacey L., Beesley, Jonathan, French, Juliet D. and Dunning, Alison M. (2013) Beyond GWASs: illuminating the dark road from association to function. American Journal of Human Genetics, 93 5: 779-797. doi:10.1016/j.ajhg.2013.10.012


Author Edwards, Stacey L.
Beesley, Jonathan
French, Juliet D.
Dunning, Alison M.
Title Beyond GWASs: illuminating the dark road from association to function
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
1537-6605
Publication date 2013-11-07
Year available 2013
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.ajhg.2013.10.012
Open Access Status DOI
Volume 93
Issue 5
Start page 779
End page 797
Total pages 19
Place of publication Cambridge, MA, United States
Publisher Cell Press
Language eng
Formatted abstract
Genome-wide association studies (GWASs) have enabled the discovery of common genetic variation contributing to normal and pathological traits and clinical drug responses, but recognizing the precise targets of these associations is now the major challenge. Here, we review recent approaches to the functional follow-up of GWAS loci, including fine mapping of GWAS signal(s), prioritization of putative functional SNPs by the integration of genetic epidemiological and bioinformatic methods, and in vitro and in vivo experimental verification of predicted molecular mechanisms for identifying the targeted genes. The majority of GWAS-identified variants fall in noncoding regions of the genome. Therefore, this review focuses on strategies for assessing likely mechanisms affected by noncoding variants; such mechanisms include transcriptional regulation, noncoding RNA function, and epigenetic regulation. These approaches have already accelerated progress from genetic studies to biological knowledge and might ultimately guide the development of prognostic, preventive, and therapeutic measures.
Keyword Genetics & Heredity
Genetics & Heredity
GENETICS & HEREDITY
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 1021731
C8197/A10865
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2014 Collection
School of Chemistry and Molecular Biosciences
 
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Created: Fri, 15 Nov 2013, 23:23:30 EST by Mrs Louise Nimwegen on behalf of School of Chemistry & Molecular Biosciences