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.

Keywords

Somatic cellBiologyComputational biologyHuman geneticsCopy-number variationGeneticsGeneGenome

MeSH Terms

AlgorithmsComputational BiologyComputer SimulationGene DosageHumansModelsTheoreticalNeoplasmsSoftwareTumor Suppressor Proteins

Affiliated Institutions

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Publication Info

Year
2011
Type
article
Volume
12
Issue
4
Pages
R41-R41
Citations
3661
Access
Closed

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3661
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323
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2903
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Cite This

Craig H. Mermel, Steven E. Schumacher, Barbara Hill et al. (2011). GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome biology , 12 (4) , R41-R41. https://doi.org/10.1186/gb-2011-12-4-r41

Identifiers

DOI
10.1186/gb-2011-12-4-r41
PMID
21527027
PMCID
PMC3218867

Data Quality

Data completeness: 86%