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GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers

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2011

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BMC
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Mermel, Craig H, Steven E Schumacher, Barbara Hill, Matthew L Meyerson, Rameen Beroukhim, and Gad Getz. 2011. “GISTIC2.0 Facilitates Sensitive and Confident Localization of the Targets of Focal Somatic Copy-Number Alteration in Human Cancers.” Genome Biology 12 (4). https://doi.org/10.1186/gb-2011-12-4-r41.

Abstract

We describe methods with enhanced power and specificity to identify genes targeted by somatic copy-number alterations (SCNAs) that drive cancer growth. By separating SCNA profiles into underlying arm-level and focal alterations, we improve the estimation of background rates for each category. We additionally describe a probabilistic method for defining the boundaries of selected-for SCNA regions with user-defined confidence. Here we detail this revised computational approach, GISTIC2.0, and validate its performance in real and simulated datasets.

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