Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan
Epilepsy Research | ELSEVIER SCIENCE BV | Published : 2017
Awarded by National Health and Medical Research Council (NHMRC) of Australia Program Grant
Awarded by R.D. Wright Career Development Fellowship
This work was supported by a National Health and Medical Research Council (NHMRC) of Australia Program Grant (628952) to SFB and IES, a Practitioner Fellowship (1006110) to IES, and a R.D. Wright Career Development Fellowship (1063799) to MSH. The Melbourne Genomics Health Alliance (a collaboration jointly funded by the Royal Melbourne Hospital, Royal Children's Hospital, University of Melbourne, Walter and Eliza Hall Institute of Medical Research, Murdoch Childrens Research Institute, CSIRO and Australian Genome Research Facility) established the overarching research study and funded the costs of sequencing, bioinformatics and laboratory analysis of this sub-study. The funding sources had no role in the design and conduct of this sub-study, nor the collection, management, analysis, and interpretation of the data or decision to submit the manuscript for publication. Authors CG and NT are funded by the Alliance to conduct the overarching research study and were involved in preparation, review, and approval of the manuscript with respect to those aspects funded by the Alliance.