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

Joke Reumers, Lucia Conde, Ignacio Medina, Sebastian Maurer-Stroh, Joost Van Durme, Joaquin Dopazo, Frederic Rousseau, Joost Schymkowitz
2007 Nucleic Acids Research  
The SNPeffect and PupaSuite databases are now synchronized to deliver annotations for both non-coding and coding SNP, as well as annotations for the SwissProt set of human disease mutations.  ...  Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome.  ...  ACKNOWLEDGEMENTS The VIB Switch laboratory was supported by a grant from the Federal Office for Scientific Affairs, Belgium (IUAP P6/43) and the Fund for Scientific Research (FWO Vlaanderen), Flanders.  ... 
doi:10.1093/nar/gkm979 pmid:18086700 pmcid:PMC2238831 fatcat:s2lyhit3bnga3lytnkv5itu6bi

Next generation tools for the annotation of human SNPs

Rachel Karchin
2009 Briefings in Bioinformatics  
Computational biology has the opportunity to play an important role in the identification of functional single nucleotide polymorphisms (SNPs) discovered in large-scale genotyping studies, ultimately yielding  ...  Affymetrix genotyping array A microarray designed to identify known single nucleotide polymorphisms, given genomic DNA from an individual.  ...  Acknowledgements The author thanks Dr Melissa Cline for valuable discussions.  ... 
doi:10.1093/bib/bbn047 pmid:19181721 pmcid:PMC2638621 fatcat:wrxufl5ayvd2nc7v5x3a4d3dr4