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Owing to the ongoing situation with covid-19, this event will be organised as a virtual conference. We are pleased to announce the 15th in our series of meetings on rare diseases, which will present an exciting blend of genomic science and clinical medicine. This meeting will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. This year’s meeting will focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions that interrogate non-coding variation in disease, explore new therapeutic approaches to rare diseases, and discuss the challenges and opportunities in implementing genomics in mainstream healthcare.