Professor Anthony Brookes’s research interests include genome structure/variation in disease, with a big focus on knowledge management to bridge research and healthcare. Recent impact from such efforts include: the GA4GH standard ‘ADA-M’; GWAS Central; and ‘Café Variome’. Previously he revealed the ‘TUF’ phenomenon which prevents genomic DNA sequences from denaturing; collaborative discovered several disease genes (e.g., PSEN1 in Alzheimer’s Disease); invented the ‘DASH’ method for reading DNA sequences by dynamic hybridisation; and devised novel ‘Megaplex-PCR’ and hybridisation-enrichment technologies.
Tony co-founded the Human Variome Project and the Human Genome Variation Society (now Vice-President). He sits on the Diagnostic Committee of IRDiRC, several Task Teams in GA4GH, and a number of expert advisory groups. He has launched two bioscience SMEs, and participates in a range of EU, IMI, and national consortia projects.
Tony moved to Leicester in 2004, where he now serves as Director of the ‘NUCLEUS’ Genomics Services facility, Lead for the ‘BINERI’ biomedical informatics strategic network (spanning disciplines across UoL and and UHL), and Associate Director of the Midlands Substantive Site for the Health Data Research UK institute (HDR-UK).