Friday, August 27, 2010

MutationTaster evaluates disease-causing potential of sequence alterations : Nature Methods : Nature Publishing Group

Identification of pathogenic DNA sequence alterations in patients with inherited diseases is one of the main tasks of human genetics. Next-generation sequencing (NGS) techniques enable sequencing of hundreds of candidate genes, whole linkage intervals or the entire exome. This inevitably leads to the detection of vast numbers of alterations, all of which have to be tested for their disease-causing potential. A recent study revealed more than 3.5 million alterations in the whole genome of a single individual, roughly corresponding to 1,000 alterations per mega–base pair


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