A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, Tiong Y Tan, Alison Yeung, Simon Sadedin, Natalie Thorne, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Susan M White, Paul A James
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2017
We would like to acknowledge the Melbourne Genomics Health Alliance Steering Group, Genomics and Bioinformatics Advisory Group and the Clinical Interpretation Reporting Group for establishing the systems and standards applied in this study. The study was funded by the founding organizations of the Melbourne Genomics Health Alliance (Royal Melbourne Hospital, Royal Children's Hospital, University of Melbourne, Walter and Eliza Hall Institute, Murdoch Childrens 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.