期刊
GENOME BIOLOGY
卷 23, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13059-022-02708-9
关键词
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资金
- Emerson Collective
- Doris Duke Charitable Foundation
- Louis B. Mayer Foundation
- Claudia Adams Barr Foundation
- Federal funds from the National Cancer Institute, National Institutes of Health [HHSN261201400008C, 17X146, HHSN261201500003I, 75N91019D00024]
- [R01CA227237]
- [R01CA244569]
- [R01MH115676]
- [R01HG006399]
- [R01HG012133]
DeCAF is a new method proposed to identify cell-fraction QTLs in tumors by leveraging both allelic and total expression information. Applied to RNA-seq data from TCGA, DeCAF discovered 3664 genes with cfQTLs in 14 cell types, representing a 5.63-fold increase compared to conventional interaction-eQTL mapping.
Here, we propose DeCAF (DEconvoluted cell type Allele specific Function), a new method to identify cell-fraction (cf) QTLs in tumors by leveraging both allelic and total expression information. Applying DeCAF to RNA-seq data from TCGA, we identify 3664 genes with cfQTLs (at 10% FDR) in 14 cell types, a 5.63x increase in discovery over conventional interaction-eQTL mapping. cfQTLs replicated in external cell-type-specific eQTL data are more enriched for cancer risk than conventional eQTLs. Our new method, DeCAF, empowers the discovery of biologically meaningful cfQTLs from bulk RNA-seq data in moderately sized studies.
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