De novo mutational signature discovery in tumor genomes using SparseSignatures.
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ABSTRACT:
SUBMITTER: Lal A
PROVIDER: S-EPMC8270462 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Publications
De novo mutational signature discovery in tumor genomes using SparseSignatures.
Lal Avantika A Liu Keli K Tibshirani Robert R Sidow Arend A Ramazzotti Daniele D
PLoS computational biology 20210628 6
Cancer is the result of mutagenic processes that can be inferred from tumor genomes by analyzing rate spectra of point mutations, or "mutational signatures". Here we present SparseSignatures, a novel framework to extract signatures from somatic point mutation data. Our approach incorporates a user-specified background signature, employs regularization to reduce noise in non-background signatures, uses cross-validation to identify the number of signatures, and is scalable to large datasets. We sh ...[more]
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