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]

Cpipe: a shared variant detection pipeline designed for diagnostic settings
Sadedin S, Dashnow H, James P, Bahlo M, Bauer D, Lonie A, et al. Cpipe: a shared variant detection pipeline designed for diagnostic settings. Genome Medicine. 2015. 7 (1) : 68.

The promise of personalised medicine
Doble B, Schofield D, Roscioli T, Mattick J. The promise of personalised medicine. The Lancet. 2016. 387 (10017) : 433—34.

Evaluation of computational programs to predict HLA genotypes from genomic sequencing data
Bauer D.C, Zadoorian A, Wilson L.O, Melbourne Genomics Health Alliance, Thorne N.P. Evaluation of computational programs to predict HLA genotypes from genomic sequencing data. Briefings in Bioinformatics. 2016. [Epub ahead of print]