Australian Genomics and Partners

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Schofield D, Alam K, Douglas L, Shrestha R, MacArthur D, Davis M, et al. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. NPJ Genomic Medicine. 2017. 2 (1) : 4.

Whole-genome landscape of pancreatic neuroendocrine tumours
Scarpa A, Chang D.K, Nones K, Corbo V, Patch A.M, Bailey P, et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature Genetics. 2017. [ePub ahead of print]

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman H A.F, Xiong B, Coe B.P, Wang T, Hoekzema K, Fenckova M, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. 2017. [Epub ahead of print]

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genetics in Medicine. 2017. [ePub ahead of print]

Known unknowns: building an ethics of uncertainty into genomic medicine
Newson A.J, Leonard S.J, Hall A, Gaff C.L. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Medical Genomics. 2016. 9 (1) : 57.

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