Article
Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis.
Clinical epigenetics - 28 Sept 2022
Pudjihartono Michael, Perry Jo K, Print Cris, O'Sullivan Justin M, Schierding William
Abstract excerpt
BACKGROUND: There has been extensive scrutiny of cancer driving mutations within the exome (especially amino acid altering mutations) as these are more likely to have a clear impact on protein functions, and thus on cell biology. However, this has come at the neglect of systematic identification of regulatory (non-coding) variants, which have recently been identified as putative somatic drivers and key germline...
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