Characterization of splice-altering mutations in inherited predisposition to cancer

Disruption of normal transcriptional splicing is a common mutational mechanism for disease-predisposing alleles. Some splice-altering mutations can be difficult to detect, and their effects difficult to characterize, because they lie deep within exons or introns. We developed cBROCA, an experimental approach that characterizes the transcriptional effects of genomic mutations anywhere in a locus….

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