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Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, the Variant Annotation, Analysis and Selection Tool, a probabilistic disease-causing mutation finder for individual human genomes.

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Scientists at the University of Utah and a Bay Area software company, Omicia, have released details of a powerful computational tool for identifying disease-causing mutations by individual genome sequencing. Researchers have used the software to rapidly screen genomic data to identify a deleterious mutation in a fatal X-linked disorder.

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Omicia is taking genome data and extracting clinical meaning, focusing on DNA variation, rather than gene expression or pathways. Omicia is also developing algorithms to predict the effect of protein-coding variants to better understand which mutations are medically relevant.

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