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OncoCis: annotation of cis-regulatory mutations in cancer
Dilmi Perera1, Diego Chacon, Julie A I Thoms
1Prince of Wales Clinical School and Lowy Cancer Research Centre, UNSW, Australia, Sydney 2052, Australia.
Abstract:
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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