文献_2010-CNVineta a data mining tool for large case–control copy number variation datasets.pdfVIP

BIOINFORMATICS APPLICATIONS NOTE Vol. 26 no. 17 2010, pages 2208–2209 doi:10.1093/bioinformatics/btq356 Data and text mining Advance Access publication July 6, 2010 CNVineta: a data mining tool for large case–control copy number variation datasets 1,∗ 2 1 1 Michael Wittig , Ingo Helbig , Stefan Schreiber and Andre Franke 1Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Schittenhelmstrasse 12, 24105 Kiel and 2 Department of Neuropediatrics, University Clinic Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, Building 9, 24105 Kiel, Germany Associate Editor: David Posada ABSTRACT of genotyping assay scatterplots derived from SNP-based genome- Motivation: Copy number variation (CNV), a major contributor to wide association studies (GWAS; WTCCC, 2007). In addition, human genetic variation, comprises ≥1 kb genomic deletions and false negative rates tend to be high (Barnes et al., 2008) which insertions. Yet, the identification of CNVs from microarray data is can, for example, cause problems when rare CNV candidates are still hampered by high false negative and positive prediction rates overlooked in the data. Current visualization tools such as the ® due to the noisy nature of the raw data. Here, we present CNVineta, Affymetrix