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Pitfalls in the phylogenomic evaluation of human disease-causing mutations

Andrew OM Wilkie

Author Affiliations

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK

Journal of Biology 2009, 8:26  doi:10.1186/jbiol127

Published: 24 March 2009


A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes.