title: Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data.
abstract: BACKGROUND
  Array Comparative Genomic Hybridization (CGH) can reveal chromosomal aberrations in the genomic DNA. These amplifications and deletions at the DNA level are important in the pathogenesis of cancer and other diseases. While a large number of approaches have been proposed for analyzing the large array CGH datasets, the relative merits of these methods in practice are not clear.
  
  
  RESULTS
  We compare 11 different algorithms for analyzing array CGH data. These include both segment detection methods and smoothing methods, based on diverse techniques such as mixture models, Hidden Markov Models, maximum likelihood, regression, wavelets and genetic algorithms. We compute the Receiver Operating Characteristic (ROC) curves using simulated data to quantify sensitivity and specificity for various levels of signal-to-noise ratio and different sizes of abnormalities. We also characterize their performance on chromosomal regions of interest in a real dataset obtained from patients with Glioblastoma Multiforme. While comparisons of this type are difficult due to possibly sub-optimal choice of parameters in the methods, they nevertheless reveal general characteristics that are helpful to the biological investigator.
authors.affiliation: Harvard-Partners Center for Genetics and Genomics 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
authors.forename: Weil R
authors.initials: WR
authors.lastname: Lai
authors.forename: Mark D
authors.initials: MD
authors.lastname: Johnson
authors.forename: Raju
authors.initials: R
authors.lastname: Kucherlapati
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Park
mesh_terms: D000465:Algorithms; D002874:Chromosome Mapping / Q000379:methods*; D005784:Gene Amplification / Q000235:genetics*; D017353:Gene Deletion; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012984:Software; D012986:Software Validation