Genome medicine Image Liquid biopsy in oropharyngeal cancer (EJSO 2022) The Aitman group has a highly successful track record in genetic analysis of complex traits and monogenic diseases in humans, utilising all available state-of-the-art sequencing technologies and computational analyses. The Group was amongst the first to identify a complex trait gene in any mammal (Aitman et al, Nature Genetics 1997, 1999), to characterise by whole genome sequencing the evolutionary history of a major model of human disease (Atanur et al, Cell, 2013), to define the criteria required for identification of complex trait genes (Glazier et al, Science 2002), to identify copy number variation as a cause of human immune disease (Aitman et al, Nature 2006; Mueller et al, American Journal of Human Genetics 2013), and to use targeted next-generation sequencing for clinical diagnosis (Weerakkody et al, Genetics in Medicine, 2016; Black et al, Genetics in Medicine, 2016; Black et al, Neurobiology of Aging, 2017). More recently, through scientific leadership of the Scottish Genomes Partnership and of the University of Edinburgh COVID-19 testing programme, TestEd, the group has contributed to and led multiple consortium papers on whole-genome sequencing for rare disease diagnosis and population genetics, and innovative methods for COVID-19 testing in large population. Links Scottish Genomes Partnership (external) TestEd Clinical Director at Edinburgh Genomics Affiliated with CRUK Edinburgh Centre This article was published on 2024-09-23
