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Pitfalls in the phylogenomic evaluation of human disease-causing mutations
Author affiliations
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
Citation and License
Journal of Biology 2009, 8:26 doi:10.1186/jbiol127
Published: 24 March 2009Abstract
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.
