title: Using large-scale genome variation cohorts to decipher the molecular mechanism of cancer.
abstract: Characterizing genomic structural variations (SVs) in the human genome remains challenging, and there is a growing interest to understand somatic SVs occurring in cancer, a disease of the genome. A havoc-causing SV process known as chromothripsis scars the genome when localized chromosome shattering and repair occur in a one-off catastrophe. Recent efforts led to the development of a set of conceptual criteria for the inference of chromothripsis events in cancer genomes and to the development of experimental model systems for studying this striking DNA alteration process in vitro. We discuss these approaches, and additionally touch upon current "Big Data" efforts that employ hybrid cloud computing to enable studies of numerous cancer genomes in an effort to search for commonalities and differences in molecular DNA alteration processes in cancer.
authors.affiliation: European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
authors.forename: Nina
authors.initials: N
authors.lastname: Habermann
authors.affiliation: European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
authors.forename: Balca R
authors.initials: BR
authors.lastname: Mardin
authors.affiliation: European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
authors.forename: Sergei
authors.initials: S
authors.lastname: Yakneen
authors.affiliation: European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, CB10 1SD Cambridge, UK. Electronic address: korbel@embl.de.
authors.forename: Jan O
authors.initials: JO
authors.lastname: Korbel
mesh_terms: D000818:Animals; D000970:Antineoplastic Agents / Q000494:pharmacology / Q000627:therapeutic use; D015894:Genome, Human; D056914:Genomic Structural Variation / Q000187:drug effects / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology; D009369:Neoplasms / Q000188:drug therapy / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents
keywords: Big data; Cancer genomics; Chromothripsie; Chromothripsis; Genetic variation; Génomique du cancer; Hybrid cloud; Informatique en nuages hybrides; Mégadonnées; Structural variation; Variation génétique; Variation structurale