One byte at a time: evidencing the quality of clinical service next generation sequencing for germline and somatic variants.

Maria Weronika Gutowska-Ding, Zandra C. Deans, Christophe Roos, Jukka Matilainen, Farrah Khawaja, Kim Brügger, Jo Wook Ahn, Christopher Boustred, Simon J. Patton. 2019. European Journal of Human Genetics https://doi.org/10.1038/s41431-019-0515-1

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Deans ZC, Allen S, Jenkins L, Khawaja F, Gutowska-Ding W, Patton SJ, Chitty LS, Hastings RJ. Prenatal Diagnosis. 2019. Feb 14. doi: 10.1002/pd.5438.

European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms.

KA Rack, E van den Berg, C Haferlach, HB Beverloo, D Costa, B Espinet, N Foot, S Jeffries, K Martin, S O’Connor, J Schoumans, P Talley, N Telford, S Stioui, Z Zemanova & RJ Hastings. Leukaemia 2019. doi.org/10.1038/s41375-019-0378-z

Best Practice for integrating cell-free DNA based NIPT into clinical practice.

Zandra C. Deans, Nicola Wolstenholme, Ros J Hastings. Non-invasive Prenatal Testing (NIPT), Chapter 11:191-205. Academic Press. 2018

European guidelines for constitutional cytogenomic analysis

(2018) Silva M, Leeuw N, Mann K, Schuring-Blom H, Morgan M, Giardino D, Rack K, Hastings. R. Eur J Hum Genet.