Morais et al., 2011] including the Human Phenotype Ontology [Robinson et al., 2008] and the Mammalian Phenotype Ontology [Smith and Eppig, 2009]. Thus, by coupling the functional predictions generated by FATHMM with domain-based ontological associations, as opposed to protein level annotations, we have developed a tool, which is capable of providing useful insights into the underlying mechanisms disrupted by AASs without any prior/background information on the protein itself. A Web-based implementation of FATHMM, which facilitates the high-throughput analysis of large-scale genomic datasets, and includes a downloadable open-source software package, is available at http://fathmm.biocompute.org.uk.
