Journal article

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz Show all



Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings, utilised standard NGS pipelines focusing only on small insertions, deletions and single nucleotide variants, and not explored impacts on management in detail. This prospective multi-site study performed ES and an extended bioinformatics repeat expansion analysis pipeline, on patients with broad phenotypes (ataxia, dementia, dystonia, spastic paraparesis, motor neuron disease, Parkinson's disease and complex/not-otherwise-specified), with symptom..

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Funding Acknowledgements

The authors would also like to thank all the referring clinicians, Professor Elsdon Storey and all other clinicians involved in assessments and recruitment at the genetics clinics, Anne Harbison and Rigan Tytherleigh for data entry, and A/Professor Tiong Tan, and scientists and clinicians at the Victorian Clinical Genetics Services. The study was funded by the State Government of Victoria (Department of Health and Human Services) and the ten member organisations of the Melbourne Genomics Health Alliance. Finally, the authors would like to thank all the patients and their families for their participation.