Principles for the post-GWAS functional characterisation of risk loci

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Zeitschriftentitel:	Nature Precedings
Personen und Körperschaften:	Monteiro, Alvaro, Coetzee, Gerhard, Freedman, Matthew, De Biasi, Mariella, Casey, Graham, Duggan, Dave, Risch, Angela, Plass, Christoph, Liu, Pengyuan, James, Michael, Vikis, Haris, Tichelaar, Jay, You, Ming, Gayther, Simon, Mills, Ian
In:	Nature Precedings, 2010
Format:	E-Article
Sprache:	Englisch
veröffentlicht:	Springer Science and Business Media LLC
Schlagwörter:	Marketing Organizational Behavior and Human Resource Management Strategy and Management Drug Discovery Pharmaceutical Science Pharmacology

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Zusammenfassung:	<jats:title>Abstract</jats:title><jats:p>Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding variants and outline a hierarchical approach for post-GWAS functional studies.</jats:p>
ISSN:	1756-0357
DOI:	10.1038/npre.2010.5162.1