A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, et al. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. European Journal of Human Genetics. 2017. 25 (11) : 1268-1272.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
Archibald AD, Smith MJ, Burgess T, Scarf KL, Elliott J, Hunt CE, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine. 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]

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
Mallawaarachchi A.C, Hort Y, Cowley M.J, McCabe M.J, Minoche A, Dinger M.E, et al. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. European Journal of Human Genetics. 2016. 24 (11) : 1584—1590.

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]

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