title: Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.
abstract: We describe a method for automatic detection of absolute segmental copy numbers and genotype status in complex cancer genome profiles measured with single-nucleotide polymorphism (SNP) arrays. The method is based on pattern recognition of segmented and smoothed copy number and allelic imbalance profiles. Assignments were verified by DNA indexes of primary tumors and karyotypes of cell lines. The method performs well even for poor-quality data, low tumor content, and highly rearranged tumor genomes.
authors.affiliation: Centre de Recherche, Institut Curie, 26 rue d'Ulm, Paris, 75248, France. tatiana.popova@curie.fr
authors.forename: Tatiana
authors.initials: T
authors.lastname: Popova
authors.forename: Elodie
authors.initials: E
authors.lastname: Manié
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: Guillem
authors.initials: G
authors.lastname: Rigaill
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Barillot
authors.forename: Marc Henri
authors.initials: MH
authors.lastname: Stern
mesh_terms: D022981:Allelic Imbalance; D001331:Automation; D001943:Breast Neoplasms / Q000235:genetics*; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D016678:Genome; D023281:Genomics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D019656:Loss of Heterozygosity; D008957:Models, Genetic; D011003:Ploidies; D020641:Polymorphism, Single Nucleotide