Article
Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs.
Cell - 1 Oct 2020
Hadi Kevin, Yao Xiaotong, Behr Julie M, Deshpande Aditya, Xanthopoulakis Charalampos, Tian Huasong, Kudman Sarah, Rosiene Joel, Darmofal Madison, DeRose Joseph, Mortensen Rick, Adney Emily M, Shaiber Alon, Gajic Zoran, Sigouros Michael, Eng Kenneth, Wala Jeremiah A, Wrzeszczyński Kazimierz O, Arora Kanika, Shah Minita, Emde Anne-Katrin, Felice Vanessa, Frank Mayu O, Darnell Robert B, Ghandi Mahmoud, Huang Franklin, Dewhurst Sally, Maciejowski John, de Lange Titia, Setton Jeremy, Riaz Nadeem, Reis-Filho Jorge S, Powell Simon, Knowles David A, Reznik Ed, Mishra Bud, Beroukhim Rameen, Zody Michael C, Robine Nicolas, Oman Kenji M, Sanchez Carissa A, Kuhner Mary K, Smith Lucian P, Galipeau Patricia C, Paulson Thomas G, Reid Brian J, Li Xiaohong, Wilkes David, Sboner Andrea, Mosquera Juan Miguel, Elemento Olivier, Imielinski Marcin
Abstract excerpt
Cancer genomes often harbor hundreds of somatic DNA rearrangement junctions, many of which cannot be easily classified into simple (e.g., deletion) or complex (e.g., chromothripsis) structural variant classes. Applying a novel genome graph computational paradigm to analyze the topology of junction copy number (JCN) across 2,778 tumor whole-genome sequences, we uncovered three novel complex rearrangement...
Topics
- Chromosome Inversion
- Chromothripsis
- DNA Copy Number Variations
- Gene Rearrangement
- Genome, Human