Article
Performance of mutation pathogenicity prediction methods on missense variants.
Human mutation - 1 Apr 2011
Thusberg Janita, Olatubosun Ayodeji, Vihinen Mauno
Abstract excerpt
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in humans. The number of SNPs identified in the human genome is growing rapidly, but attaining experimental knowledge about the possible disease association of variants is laborious and time-consuming. Several computational methods have been developed for the classification of SNPs according to their predicted pathogenicity. In...
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