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SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs

J. Reumers, S. Maurer-Stroh, J. Schymkowitz, F. Rousseau
2006 Bioinformatics  
Accordingly, the SNPeffect database uses sequence-and structure-based bioinformatics tools to predict the effect of nonsynonymous SNPs on the molecular phenotype of proteins.  ...  The current edition holds the molecular phenotype of 74 567 nsSNPs in 23 426 proteins.  ...  This work was partially supported by a FEBS short term fellowship to Sebastian Maurer-Stroh.  ... 
doi:10.1093/bioinformatics/btl348 pmid:16809394 fatcat:kg3zbqfbknb5pcxuyelzwuxf6i

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

Mingxiang Teng, Shoji Ichikawa, Leah R. Padgett, Yadong Wang, Matthew Mort, David N. Cooper, Daniel L. Koller, Tatiana Foroud, Howard J. Edenberg, Michael J. Econs, Yunlong Liu
2012 Computer applications in the biosciences : CABIOS  
Motivation: One of the fundamental questions in genetics study is to identify functional DNA variants that are responsible to a disease or phenotype of interest.  ...  When tested by using the disease-causing variants documented in the Human Gene Mutation Database, regSNPs showed mixed performance on various diseases. regSNPs predicted three SNPs that can potentially  ...  ACKNOWLEDGEMENTS The authors thank the valuable discussion from Dr Lang Li in the Center for Computational Biology and Bioinformatics at Indiana University School of Medicine.  ... 
doi:10.1093/bioinformatics/bts275 pmid:22611130 pmcid:PMC3389767 fatcat:bikoa7y35jfcvilnytnhutrqpy