title: Robust regression analysis of copy number variation data based on a univariate score.
abstract: BACKGROUND
  The discovery that copy number variants (CNVs) are widespread in the human genome has motivated development of numerous algorithms that attempt to detect CNVs from intensity data. However, all approaches are plagued by high false discovery rates. Further, because CNVs are characterized by two dimensions (length and intensity) it is unclear how to order called CNVs to prioritize experimental validation.
  
  
  RESULTS
  We developed a univariate score that correlates with the likelihood that a CNV is true. This score can be used to order CNV calls in such a way that calls having larger scores are more likely to overlap a true CNV. We developed cnv.beast, a computationally efficient algorithm for calling CNVs that uses robust backward elimination regression to keep CNV calls with scores that exceed a user-defined threshold. Using an independent dataset that was measured using a different platform, we validated our score and showed that our approach performed better than six other currently-available methods.
  
  
  BACKGROUND
  cnv.beast is available at http://www.duke.edu/~asallen/Software.html.
authors: Division of Reproductive Health, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America.
authors: Glen A
authors: GA
authors: Satten
authors: Department of Biostatistics and Bioinformatics and Duke Clinical Research Institute, Duke University, Durham, North Carolina, United States of America.
authors: Andrew S
authors: AS
authors: Allen
authors: Department of Human Genetics, Emory University, Atlanta, Georgia, United States of America.
authors: Morna
authors: M
authors: Ikeda
authors: Department of Human Genetics, Emory University, Atlanta, Georgia, United States of America ; Department of Epidemiology, Emory University, Atlanta, Georgia, United States of America.
authors: Jennifer G
authors: JG
authors: Mulle
authors: Department of Epidemiology, Emory University, Atlanta, Georgia, United States of America.
authors: Stephen T
authors: ST
authors: Warren
mesh_terms: D056915:DNA Copy Number Variations; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics / Q000379:methods*; D006801:Humans; D012044:Regression Analysis; D012984:Software