Journal article
Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA van den Bergen, G Robevska, T Ohnesorg, J Hewitt, L Lambeth, A Bouty, IM Knarston, TY Tan, F Cameron, G Werther, J Hutson, M O'Connell, SR Grover, Y Heloury, M Zacharin, P Bergman, C Kimber, J Brown Show all
Genome Biology | BIOMED CENTRAL LTD | Published : 2016
Abstract
Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. Results: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 dia..
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Awarded by Australian Government
Funding Acknowledgements
The authors' research work was supported by The National Health and Medical Research Council, Australia (Program grant number 546517 to A.S., P.K. V.R.H.), the Helen Macpherson Smith Trust (Partnership grant 6846 to A.S.), the Ian Potter Centre for Genomics and Personalised Medicine to A.S., The University of Melbourne (MIRS to S.E.), The Australian Government, Department of Innovation, Industry, Science and Research (IPRS to S.E.), and the Victorian Government's Operational Infrastructure Support Program, and the National Health and Medical Research Council Australia Independent Medical Research Institutes Infrastructure Support Scheme (S.E.). S.S. received funding from the Australian Government through an Australian Postgraduate Award and from the Victorian Life Sciences Computation Initiative.