OncoCis: annotation of cis-regulatory mutations in cancer

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作者
Dilmi Perera
Diego Chacon
Julie AI Thoms
Rebecca C Poulos
Adam Shlien
Dominik Beck
Peter J Campbell
John E Pimanda
Jason WH Wong
机构
[1] UNSW Australia,Prince of Wales Clinical School and Lowy Cancer Research Centre
[2] Wellcome Trust Sanger Institute,Cancer Genome Project
[3] Addenbrooke’s Hospital,Department of Haematology
[4] Prince of Wales Hospital,Department of Haematology
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关键词
Histone Mark; Human Mammary Epithelial Cell; Breast Cancer Sample; TERT Promoter Mutation; Transcription Factor Binding Motif;
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摘要
Whole genome sequencing has enabled the identification of thousands of somatic mutations within non-coding genomic regions of individual cancer samples. However, identification of mutations that potentially alter gene regulation remains a major challenge. Here we present OncoCis, a new method that enables identification of potential cis-regulatory mutations using cell type-specific genome and epigenome-wide datasets along with matching gene expression data. We demonstrate that the use of cell type-specific information and gene expression can significantly reduce the number of candidate cis-regulatory mutations compared with existing tools designed for the annotation of cis-regulatory SNPs. The OncoCis webserver is freely accessible at https://powcs.med.unsw.edu.au/OncoCis/.
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