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Co-led by Prof Paresh Vyas and Prof Thomas Höfer, the study introduces SCIFER, a computational tool that detects and characterises clonal selection—a process where some cells, through random mutations or epigenetic change, gain an advantage over their neighbours and expand disproportionately. Over time, these mutant clones dominate a tissue and may change its function. This phenomenon, known as somatic evolution, occurs in all tissues and can change tissue function and, in some circumstances, lead to cancer.
Unlike these existing approaches, SCIFER works with bulk tissue samples, is much cheaper and quicker to use. It uses somatic mutations as natural barcodes to reconstruct the growth history of cells in a tissue. By applying evolutionary theory, the tool can determine whether a group of cells expanded unusually fast, when this expansion began, and how quickly it progressed.
The research team applied SCIFER to:
- Blood samples from 21 healthy individuals, finding widespread evidence of clonal selection across all age groups, even in people without known cancer mutations.
- Brain tissue samples from over 130 individuals were analysed, discovering that selection also occurs in the brain but tends to begin in early life. In two cases, the mutations matched those seen in brain cancers, suggesting the presence of pre-malignant clones.
While SCIFER is primarily a research tool, the team hopes it could eventually improve understanding of how diseases like cancer begin and progress, possibly informing future efforts in early diagnosis and predicting disease progression.
Read the full story on the Radcliffe Department of Medicine website.