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Casey, Graham; Liu, Pengyuan; De Biasi, Mariella; Tichelaar, Jay; Carlson, Chris; Vikis, Haris; Duggan, Dave; You, Ming; Mills, Ian; Freedman, Matthew; Monteiro, Alvaro; Gayther, Simon; Coetzee, Gerhard; Risch, Angela; James, Michael; Plass, Christoph

Principles for the post-GWAS functional characterisation of risk loci

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  • Media type: E-Article
  • Title: Principles for the post-GWAS functional characterisation of risk loci
  • Contributor: Casey, Graham; Liu, Pengyuan; De Biasi, Mariella; Tichelaar, Jay; Carlson, Chris; Vikis, Haris; Duggan, Dave; You, Ming; Mills, Ian; Freedman, Matthew; Monteiro, Alvaro; Gayther, Simon; Coetzee, Gerhard; Risch, Angela; James, Michael; Plass, Christoph
  • imprint: Springer Science and Business Media LLC, 2011
  • Published in: Nature Precedings
  • Language: English
  • DOI: 10.1038/npre.2011.5162.2
  • ISSN: 1756-0357
  • Keywords: Marketing ; Organizational Behavior and Human Resource Management ; Strategy and Management ; Drug Discovery ; Pharmaceutical Science ; Pharmacology
  • Origination:
  • Footnote:
  • Description: <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 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.</jats:p>
  • Access State: Open Access