biorxiv.org

CNSigs: An R Package for the Identification of Copy Number Mutational Signatures (opens in new tab)

Background: Copy number aberrations (CNAs) are gains and losses of large genomic segments present across most cancer types and are a hallmark of cancer genomic alterations. However, the processes underlying CNAs and characteristic patterns of CNAs are poorly understood. Bioinformatic advances have identified underlying single nucleotide variant (SNV) mutational signatures resulting from distinct mutational processes, yet development of algorithms able to uncover similar signatures for CNAs re...

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