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Researchers in Oxford have identified types of genetic variants that lead to a range of rare disease but are not picked up by standard genetic testing.

Alistair Pagnamenta and Alexandra Noble in the genomics laboratory

A team at the University of Oxford’s Centre for Human Genetics analysed whole genome sequencing data from the 100,000 Genomes Project. They were specifically looking for a particular type of variant, called inversions. These are structural variants in which segments of the genetic code in DNA are reversed in the sequence, disrupting the function of the encoded gene.

From the 33,924 families whose genetic data were investigated, 47 inversions were identified. This led not only to a genetic diagnosis – often after many years of uncertainty – but also changes in clinical management for several affected individuals.

Some of these were people with colorectal cancer, and the diagnosis enabled family members to be offered screening, including regular surveillance and colonoscopies, and potentially facilitating the early removal of polyps before they progress to cancer.

The findings of the study, which was supported by the National Institute for Health and Care Research (NIHR) Oxford Biomedical Research Centre (BRC), were published in the American Journal Human Genetics.


Read the full story on the NIHR Oxford Biomedical Research Centre.