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Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases

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...

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Détails bibliographiques
Auteurs principaux: Reumers, Joke, Conde, Lucia, Medina, Ignacio, Maurer-Stroh, Sebastian, Van Durme, Joost, Dopazo, Joaquin, Rousseau, Frederic, Schymkowitz, Joost
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2238831/
https://ncbi.nlm.nih.gov/pubmed/18086700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkm979
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