Investigating The Role of Non Coding Mutations in Cancer - Dilmi Perera
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Medical research has focused primarily on protein-coding mutations owing to the difficulty of interpreting noncoding mutations. However, projects like ENCODE  and the Epigenome Atlas  have made ...
Medical research has focused primarily on protein-coding mutations owing to the difficulty of interpreting noncoding mutations. However, projects like ENCODE  and the Epigenome Atlas  have made large data sets from various genome wide experiments publicly available which has helped enhance the annotation of the non-coding genome. Integration of these types of data sets have allowed us to better understand the functions of non coding sequences, the rich regulatory models and the epistatic interactions underlying disease associations.
Another reason for interest in non-coding mutations to arise only in the recent past is due to the fact that sequencing cost has dropped so rapidly through out the past few years that it is now feasible to sequence whole genomes of cancer samples for a reasonable cost which enables researchers to catalogue both coding and non-coding mutations. TCGA or the cancer genome atlas is a publicly available database which has over a 1000 such cancer genomes just waiting to be analyzed which makes it a potential gold mine for this type of research.
Scoring mechanism for somatic mutations within regulatory or non-coding regions to identify/predict possible causal mutations.
Scoring mechanism will help researchers in finding mutations of interest as well as narrowing down the options for selecting mutations to be experimentally verified.
How interesting is the regions in which the mutation occurs in terms of chromatin structure, epigenetics, conservations etc. The figure below shows the type of mutations of interest.
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