Combining accurate tumour genome simulation with crowd-sourcing to benchmark somatic structural variant detection
Anna Y. Lee, Adam D. Ewing, Kyle Ellrott, Yin Hu, Kathleen E. Houlahan, J Christopher Bare, Shadrielle M. G. Espiritu, Vincent Huang, Kristen Dang, Zechen Chong, Cristian Caloian, Takafumi N. Yamaguchi, ICGC-TCGA DREAM Somatic Mutation Calling Challenge Participants, Michael Kellen, Ken Chen, , Paul Christopher Boutros
The paper benchmarks somatic structural variant detection methods using synthetic tumors and crowd-sourced submissions, finding that ensembles do not always outperform individual methods.
Genome biology · Nov 6, 2018Peer-reviewedBioinformatics