Dr Nicky Whiffin is an Associate Professor, Sir Henry Dale Fellow, and lead of the research theme in Genomics at the Big Data Institute and Centre for Human Genetics at the University of Oxford, UK. She is also a research fellow at St Anne’s College, University of Oxford and a visiting scholar at the Broad Institute of MIT and Harvard, USA. Dr Whiffin’s research uses computational approaches to interpret the role of genetic variants in rare diseases, particularly those that impact gene regulation. She is considered an expert in the annotation and interpretation of variants in non-coding regions of the genome, for which she has led the creation of clinical guidelines, and created numerous open-source tools. Dr Whiffin’s work has amassed over 13,000 citations.