Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...

Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada Correspondence to: Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, ...

4 Centre for MEGA Epidemiology, The University of Melbourne, Victoria, Australia 5 Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia and Queensland Institute of Medical Research, Brisbane, ...

2 Scientific Director, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada Margaret W. Thompson was one of the true pioneers in the development of medical genetics as a discipline. Peggy, as ...

5 Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, USA 6 Department of Communication and Huntsman Cancer Institute, University of Utah Background Moderate-risk genes ...

Correspondence to Dr Hui-Qi Qu, University of Texas Health Science Center at Houston, School of Public Health, Brownsville campus, 80 Fort Brown, SPH Bldg, Brownsville, TX 78520, USA; ...

Background Advances in next generation sequencing (NGS) technology have made it possible to interrogate comprehensively genome-wide genetic variations. However, most existing tools for variation ...