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- W4297493643 abstract "Abstract 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 risk factors for cancer development. Comprehensive understanding of non-coding mutations requires understanding their role in the disruption of regulatory elements, which then disrupt key biological functions such as gene expression. Main body We describe how advancements in sequencing technologies have led to the identification of a large number of non-coding mutations with uncharacterized biological significance. We summarize the strategies that have been developed to interpret and prioritize the biological mechanisms impacted by non-coding mutations, focusing on recent annotation of cancer non-coding variants utilizing chromatin states, eQTLs, and chromatin conformation data. Conclusion We believe that a better understanding of how to apply different regulatory data types into the study of non-coding mutations will enhance the discovery of novel mechanisms driving cancer." @default.
- W4297493643 created "2022-09-29" @default.
- W4297493643 creator A5027395473 @default.
- W4297493643 creator A5044708863 @default.
- W4297493643 creator A5053417099 @default.
- W4297493643 creator A5078727686 @default.
- W4297493643 creator A5079814428 @default.
- W4297493643 date "2022-09-28" @default.
- W4297493643 modified "2023-10-16" @default.
- W4297493643 title "Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis" @default.
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