Somatic genomics

The Somatic genomics theme explores how exogenous factors, such as lifestyle, and endogenous factors, like blood biochemistry, influence somatic molecular aberrations that drive disease. By leveraging advanced bioinformatics and machine learning, we also aim to predict the impact of driver mutations and better understand the molecular links between genomic changes and cancer phenotypes.

Watch the video for an overview by Amy Francis, chair of the Somatic genomics theme.

Highlights include:

Somatic molecular traits refer to the molecular aberrations that are observed in the cells of the body – aberrations that are not inherited but acquired over the course of life. These include changes in the protein coding sequence of DNA (that is, mutations) and changes in gene expression, copy number, and methylation. Each of these can be studied at the level of single genes or genome-wide biological pathways and signatures that reflect the cumulative effects of specific underlying mutagenic processes such as defects in DNA damage repair.

Somatic molecular aberrations are the key driver of the transformation of normal cells into tumour cells. Despite their profound mechanistic importance to the development of cancer, we do not really know how exogenous factors, such as our lifestyle and health-related behaviours, and endogenous factors, such as blood biochemistry, impact on somatic molecular traits. Over the course of ICEP2, we have used Mendelian randomization to comprehensively study the influence of these factors on somatic traits.

Image credit: Qubeat, Wikimedia Commons https://creativecommons.org/licenses/by-sa/4.0/deed.en
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