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Developments in whole genome sequencing technologies have catalysed incredible progress in the diagnosis of rare disease and the discovery of novel disease-associated genes.
However, large-scale sequencing of population cohorts has revealed that many healthy individuals carry the same disease-causing variants as patients. The extent of this incomplete penetrance in individuals not ascertained on the basis of a family history or clinical diagnosis is neither well understood nor widely appreciated.
In this talk, Professor Caroline Wright, Professor of Genomic Medicine at the Department of Clinical and Biomedical Sciences at the University of Exeter, will outline recent research into penetrance of different diseases across different populations, and discuss the broader implications of these findings for genomic screening.
The talk will be followed by a drinks reception, all welcome.
This is the Dr Stanley Ho Memorial Lecture organised by the Oxford Martin School and the Centre for Personalised Medicine.
