Dissemin is shutting down on January 1st, 2025

Published in

Nature Precedings

DOI: 10.1038/npre.2010.5162

Nature Precedings

DOI: 10.1038/npre.2010.5162.1

Nature Precedings

DOI: 10.1038/npre.2011.5162.2

Links

Tools

Export citation

Search in Google Scholar

Principles for the post-GWAS functional characterisation of risk loci

Journal article published in 2010 by Chris Carlson, Mariella De Biasi, Graham Casey, Alvaro N. A. Monteiro ORCID, Matthew L. Freedman, Dave Duggan, Gerhard A. Coetzee, Pengyuan Liu, Jay W. Tichelaar, Angela Risch, Haris G. Vikis, Christoph Plass, Ming You, Michael James, Ian G. Mills and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

Abstract

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 to 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 SNPs 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.