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CNVineta: a data mining tool for large case–control copy number variation datasets

Michael Wittig, Ingo Helbig, Stefan Schreiber, Andre Franke
2010 Computer applications in the biosciences : CABIOS  
Introduction CNVineta is a flexible data mining tool for the analysis of copy number variations (CNVs) in large case-control SNP array data sets. The tool is available as an R statistical package.  ...  CNVineta offers a flexible and fast access to CNVs by allowing for a quick graphical overview in large case-control datasets.  ... 
doi:10.1093/bioinformatics/btq356 pmid:20605930 pmcid:PMC2922892 fatcat:uiwcatnsqnhzlm2jao5kaccss4

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci

Hamid Reza Saadati, Michael Wittig, Ingo Helbig, Robert Häsler, Carl A. Anderson, Christopher G. Mathew, Limas Kupcinskas, Miles Parkes, Tom Hemming Karlsen, Philip Rosenstiel, Stefan Schreiber, Andre Franke
2016 BMC Medical Genetics  
In this study, we performed a multi-step genome-wide case-control analysis to interrogate the presence of disease-relevant rare copy number variants.  ...  CCZ1 (0.13 % cases, 0.01 % controls) and a 134 kb large duplication upstream of the KCNK9 gene at 8q24.3 (0.22 % carriers among cases, 0.03 % carriers among controls).  ...  We thank the WTCCC consortium for access to UC case/control data sets and appreciate the support of the National Institute for Health Research (NIHR) Biomedical Research Centre at Guy's and St Thomas'  ... 
doi:10.1186/s12881-016-0289-z pmid:27037036 pmcid:PMC4818401 fatcat:qb5frzxl6vc4fisripw4tng4uy