MutationTaster evaluates disease-causing potential of sequence alterations

JM Schwarz, C Rödelsperger, M Schuelke, D Seelow - Nature methods, 2010 - nature.com
Nature methods, 2010nature.com
To the Editor: 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 …
To the Editor: 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 pair1.
Automated pre-evaluation of sequence variations can help to direct the subsequent in-depth analysis to the most promising candidates, hence saving time and resources. However, the currently available evaluation tools predict only the outcome of amino-acid exchanges and cannot process thousands of queries in a reasonable time.
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