Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2018
The authors are grateful to all the children and families involved in this study. Statistical support was provided by Susan Donath from the Clinical Epidemiology and Biostatistics Unit of the Murdoch Children's Research Institute. Genetic counselling support was provided by the Melbourne Genomics funded genetic counsellors and data-management support from Nessie Mupfeki. Systems and standards support was provided by the Clinical Genomics and Bioinformatics Advisory Group and the Clinical Genomics Advisory Group. The study was funded by the founding organisations of the Melbourne Genomics Health Alliance (Royal Melbourne Hospital, Royal Children's Hospital, University of Melbourne, Walter and Eliza Hall Institute, Murdoch Children's Research Institute, Australian Genome Research Facility and CSIRO) and the State Government of Victoria (Department of Health and Human Services). The involvement of AGRF was supported by sponsorship from Bioplatforms Australia and the NCRIS program. Further support and backing for this study was provided by the Royal Children's Hospital, Melbourne and Victorian Clinical Genetics Services staff for referring patients.