Article
Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.
Nucleic acids research - 1 Jan 2008
Reumers Joke, Conde Lucia, Medina Ignacio, Maurer-Stroh Sebastian, Van Durme Joost, Dopazo Joaquin, Rousseau Frederic, Schymkowitz Joost
Abstract excerpt
Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutations in groups of patients and control individuals, the distinction between disease causing...
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