Copley group

Research Overview

Applications of sequence analysis to medical genetics

Studies to identify genomic variants causing increased susceptibility to disease often give results that are hard to interpret in terms of the molecular function of genes. The significant variant, for instance, may not be the causative variant, it may lie in a gene for which little functional information is available or may not be obviously associated with any gene. Even when the gene function and causative variant are known, there is not necessarily an obvious connection with the phenotype. I am interested in developing computational techniques to lead to a better understanding of gene function and the effects of sequence variation on those functions.  Particular interests include: the interpretation of multiple regions of association in terms of common biochemical pathways; the functional redundancy of paralogs and the effects of sequence variation on alternative splicing and gene expression.


Mole DR, Blancher C, Copley RR, Pollard P, Gleadle JM, Ragoussis J, Ratcliffe PJ (2009) J Biol Chem 284:16767-16775 Genome-wide chromatin-immunoprecipitation by the HIF-1a and HIF-2a transcription factors and its correlation with gene regulation

Copley, RR. (2008) Phil Trans Roy Soc B 363:1453-1461 The animal in the genome: comparative genomics and evolution.

Copley RR, Totrov M, Linnell J, Field S, Ragoussis J, Udalova IA (2007) Genome Res, 17:1327-1335. Functional conservation of Rel binding sites in drosophilid genomes.

Hull J, Campino S, Rowlands K, M-S, Copley RR, Taylor MS, Rockett K, Elvidge G, Keating B, Knight J, Kwiatkowski D. (2007) PLoS Genet 3:e99. Identification of common genetic variation which modulates alternative splicing.

Bourlat SJ, Juliusdottir T, Lowe C, Gerhart J, Freeman R, Aronowicz J, Kirschner M, Lander ES, Thorndyke M, Nakano H, Moroz L, Heyland A, Copley RR, Telford MJ. (2006) Nature 444:85-8 Phylogeny of all major deuterostome groups reveals the new phylum Xenoturbellida and monophyletic chordates


Wellcome Trust; BBSRC CoSyst;


bioinformatics; comparative genomics;

Research Area