Recommendations for reporting results of diagnostic genomic testing.

Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovercic L, Ounap K, Tabiner M, Treacy R and van Asperen CJ. Recommendations for reporting results of diagnostic genomic testing. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01091-0

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group, Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. PMID: 35182509; PMCID: PMC8850201.

Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations

Ptasinska A, Whalley C, Bosworth A, Poxon C, Bryer C, Machin N, Grippon S, Wise EL, Armson B, Howson ELA, Goring A, Snell G, Forster J, Mattocks C, Frampton S, Anderson R, Cleary D, Parker J, Boukas K, Graham N, Cellura D, Garratt E, Skilton R, Sheldon H, Collins A, Ahmad N, Friar S, Burns D, Williams T, Godfrey KM, Deans Z, Douglas A, Hill S, Kidd M, Porter D, Kidd SP, Cortes NJ, Fowler V, Williams T, Richter A, Beggs AD. Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations. Clin Microbiol Infect. 2021 Sep;27(9):1348.e1-1348.e7. doi: 10.1016/j.cmi.2021.04.008. Epub 2021 Apr 24. PMID: 33901668; PMCID: PMC8064897.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone U.S. Leong, Arina Puzriakova, Louise C. Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen K. Brittain, Ellen R.A. Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Y. Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue L. Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh.
The American Journal of Human Genetics, Volume 108, Issue 9, 2021, Pages 1551-1557, ISSN 0002-9297. https://doi.org/10.1016/j.ajhg.2021.06.020.

Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path)

Fenizia F, Wolstenholme N, Fairley JA, Rouleau E, Cheetham MH, Horan MP, Torlakovic E, Besse B, Al Dieri R, Tiniakos DG, Deans ZC, Patton SJ, Normanno N. Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path). Virchows Arch. 2021 Apr 15. doi: 10.1007/s00428-021-03093-7. Epub ahead of print. PMID: 33856555.