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Functional Variation Research

Team Members

Richard Anney
Matthew Hill

Summary Of Research

Many research programmes identify variation in the genome that is associated or linked to a trait. It is important to translate these findings into tool-sets that can assist in early diagnosis, intervention and treatment strategies. We are using a range of molecular, cellular and bioinformatics tools to examine the intermediate step in this process, namely the characterisation of the "functional" impact of statistically associated variants.
The functional elucidation of a statistically association variant will further our understanding of disease aetiology and provide evidence to support diagnostic and therapeutic strategies. In the Functional Variation Research Group we use a range of wet-lab and bioinformatics approaches to investigate common functional diversity in human genes. In the laboratory we apply a range of cell-based techniques include Allele Expression Imbalance (AEI) and gene-reporter technology. AEI of the gene message and of Immunoprecipitated DNA is a powerful quantitative technique for investigating cis-acting variation while minimizing confounding trans-acting factors. Our work overlaps with that of the Bioinformatics Research Team, where we examine is silico approaches to characterise the putative functionality of association at the SNP, gene and pathway level.

Functional Variant Graphs


International Multicentre ADHD Genetics Programme
Knight Laboratory, Wellcome Trust Centre For Human Genetics, Oxford
ADHD Molecular Genetics Network - Functional Genetics Working Group
Autism Genome Project


Health Research Board Project Grant (2007-2008): Functional Significance of Common Genetic Diversity: the role of common haplotypes on the expression of genes associated with ADHD
Principle Investigator: Richard Anney



Last updated 21 September 2016 by School Web Administrator.