Article
motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites.
Bioinformatics (Oxford, England) - 1 Dec 2015
Coetzee Simon G, Coetzee Gerhard A, Hazelett Dennis J
Abstract excerpt
UNLABELLED: Functional annotation represents a key step toward the understanding and interpretation of germline and somatic variation as revealed by genome-wide association studies (GWAS) and The Cancer Genome Atlas (TCGA), respectively. GWAS have revealed numerous genetic risk variants residing in non-coding DNA associated with complex diseases. For sequences that lie within enhancers or promoters of...
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