Journal article

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul-Fernandez, Justine E Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J Brown, Chloe Stutterd, Martin B Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara L Gaff, Susan M White

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2019


Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including both biological parents with the proband (trio; tES). In this study we sought to compare the efficiencies of exome sequencing (ES) by trio (tES) versus singleton (sES) approach, determine costs, and identify factors to consider when deciding on optimal implementation strategies for the diagnosis of monogenic disorders. We undertook ES in 30 trios and analysed each proband's sES and tES data in parallel. Two teams were randomly allocated to either sES or tES analysis for each case and blinded to each other's work. Each task was timed and cost analyses were based o..

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Funding Acknowledgements

The study was funded by the State Government of Victoria (Department of Health and Human Services) and the 10 member organisations of the Melbourne Genomics Health Alliance (The Royal Melbourne Hospital, The Royal Children's Hospital, The University of Melbourne, The Walter and Eliza Hall Institute, Murdoch Children's Research Institute, CSIRO, Australian Genome Research Facility, Peter MacCallum Cancer Centre, Austin Health and Monash Health).