Investigation of Mutations in the non-coding regions of the cancer genome

Abstract

Encode (Encyclopedia of DNA elements) shows that most of the human genome is biochemically active with respect to transcription, translation, etc. though most of the products and their roles are not yet known. Previous studies in our lab using whole genome sequencing, total RNA seq transcriptomics, and proteomics data, integrated in a compact framework developed by our own group called ‘Systems Proteogenomics’, has shown evidence of translation of protein-like products from the entire genome (Prabakaran, S. et al., 2014.). We hypothesize that most of these ‘protein-like’ products could be actively involved in maintaining our physiology as studies have indicated that 90% of disease-associated mutations are mapped to regions that are currently identified as ‘noncoding’ (St. Laurent et al., 2014). Here, we aim to investigate mutations in these noncoding regions that code for these protein-like products and develop a pipeline to validate them and try to understand their roles in context of development and progression of five different types of cancer, especially.