Article
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.
Human mutation - 1 Aug 2011
Liu Xiaoming, Jian Xueqiu, Boerwinkle Eric
Abstract excerpt
With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering or prioritizing nonsynonymous SNP (NS) for further analysis. Unfortunately, different prediction algorithms use different...
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