A list of publications arising from and referring to the Project is shown below the citation directions. If you are publishing on the Project, or know of a relevant publication not listed here, please contact us.

How to acknowledge us

This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support.

How to cite us

The 100,000 Genomes Project Protocol v3, Genomics England. doi:10.6084/m9.figshare.4530893.v2. 2017.


The rise of the genome and personalised medicine
Helen K Brittain, Richard Scott, Ellen Thomas
Clin Med 2017;17(6):545–51 (1 December 2017)

The growth of molecular diagnostics: Stratified Medicine Programme, the 100,000 Genomes Project and the future
Rachel L Nelan, Mary-Kate Hayward, J Louise Jones
Diagn Histopathol 2017;23(10):458–67 (31 October 2017)

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals towards secondary findings in context of a genomic medicine multidisciplinary team and the 100,000 Genomes Project
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair et al.
Genet Med 2017; doi:10.1038/gim.2017.157 (26 October 2017)

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno et al.
Hum Mutat 2017; doi:10.1002/humu.23349 (17 October 2017)

Commit to talks on patient data and public health
Vivienne Parry
Nature 2017;548(7666):137 (08 August 2017)

HGVA: the Human Genome Variation Archive
Javier Lopez, Jacobo Coll, Matthias Haimel et al.
Nucleic Acids Res 2017;45:W189–W194 (23 May 2017)

Socialising the genome
Vivienne Parry, Anna Middleton
Lancet 2017;389(10079):1603–4 (22 April 2017)

Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy
Rachel L Taylor, Gavin Arno, James A Poulter
JAMA Ophthalmol 2017;135(4):339–47 (1 April 2017)

Single-base substitutions in the CHM promoter as a cause of choroideremia
Alina Radziwon, Gavin Arno, Dianna K Wheaton et al.
Human Mutat 2017;38(6):704–15 (24 March 2017)

The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors
Anna Middleton, Peter Marks, Anita Bruce et al.
Eur J Hum Genet 2017;25(6):659–61 (22 March 2017)

The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad et al.
Nucleic Acids Res 2017;45:D865–D876 (04 January 2017)


Making sense of big data in health research: towards an EU action plan
Charles Auffray, Rudi Balling, Inês Barroso et al.
Genome Med 2016;8:71 (23 June 2016)

Rare inherited skin diseases and the Genomics England 100,000 Genome Project
J A McGrath
Br J Dermatol 2016;174(2):257–8 (12 February 2016)

The dawn of genomic medicine: the role of the 100,000 Genomes Project in breast care management
Julian Barwell, Corrina Powell, Helen Harrison
Breast Cancer Manag 2016;5(1):7–11 (8 February 2016)

The 100,000 Genomes Project: what it means for paediatrics
Blanche H Griffin, Lyn S Chitty, Maria Bitner-Glindzicz
Arch Dis Child Educ Pract Ed 2017;102(2):105–7 (9 December 2016)


The DNA of a nation
Vivien Marx
Nature 2015;524:503–5 (27 August 2015)

Global implementation of genomic medicine: we are not alone
Teri A. Manolio, Marc Abramowicz, Fahd Al-Mulla et al
Sci Transl Med 2015;7(290):290ps13 (03 June 2015)

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