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Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

Kirsten Faber, Karl-Heinz Glatting, Phillip J Mueller, Angela Risch, Agnes Hotz-Wagenblatt
2011 BMC Bioinformatics  
Because most SNP annotation tools look for SNPs which lead to an amino acid exchange or a premature stop, we designed a new tool called AASsites which searches for SNPs which modify splicing.  ...  splicing pattern of the gene and hereby result in a different protein.  ...  Acknowledgements This article has been published as part of BMC Bioinformatics  ... 
doi:10.1186/1471-2105-12-s4-s2 pmid:21992029 pmcid:PMC3194194 fatcat:yklyiarpzvehjp4mkkv2l6skfy

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu
2013 Genetics in Medicine  
CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium (National Heart, Lung, and Blood Institute/RC2-HL102419).  ...  ACKNOWLEDGMENTS This work was supported by the grants Genomic Approaches to Common Chronic Disease (National Institute of General Medical Sciences/P50GM065509) and Building on GWAS for NHLBIdisease: the  ...  both the PWM and MED models. 32 Automatic Analysis of SNP sites (AASsites; http://genius. embnet.dkfz-heidelberg.de/menu/biounit/ open-husar/) is a new analysis pipeline that predicts splicing pattern  ... 
doi:10.1038/gim.2013.176 pmid:24263461 pmcid:PMC4029872 fatcat:ff5ob3lcr5eifdxrlf4zkpuo2u