Publications
A list of publications arising from and referring to the Project is shown below the citation directions. If you know of a relevant publication not listed here, please contact us.
If you are writing a paper
If you are writing a paper about the 100,000 Genomes Project or using the Project data, please inform the GeCIP team at [email protected]. We will need to review a draft of your manuscript at least 2 weeks in advance of submission, in order to check that the information is correct, the correct acknowledgements are present and for any potential issues with IP.
Please also see our Publication Policy.
Who to add as an author
We ask that all papers that use the 100,000 Genomes Project data include Genomics England Research Consortium as an author to reflect staff members’ contribution to the Project. Click here to access the author list for the consortium.
If you feel that any individual in particular from Genomics England has contributed enough directly to warrant authorship, you can add them directly as an author.
How to acknowledge us
Please use the following acknowledgement text for papers:
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 and Social Care). 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.
Please use the following short acknowledgement text for abstracts and posters:
This research was made possible through access to the data and findings generated by the 100,000 Genomes Project; http://www.genomicsengland.co.uk.
How to cite us
The National Genomics Research and Healthcare Knowledgebase v5, Genomics England. doi:10.6084/m9.figshare.4530893.v5. 2019.
2019
- Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Alistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Human Molecular Genetics 2019; doi: 10.1093/hmg/ddz186 (31 July 2019) - Germline selection shapes the landscape of human mitochondrial DNA
Wei Wei, Patrick Chinnery, Eamonn R. Maher, Andrew Wilkie, et al
Science 2019; doi: 10.1126/science.aau6520 (24 May 2019) - Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Gabrielle Wheway and Hannah M. Mitchison
Frontiers in Genetics 2019; doi: 10.3389/fgene.2019.00127 (11 March 2019) - Whole-genome sequencing of rare disease patients in a national heathcare system
Willem Hendrik Ouwehand
bioRxiv 2019; doi:10.1101/507244 (01 January 2019)
2018
- Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
Timothy M. Walker, Sarah Walker, Tim E.A. Peto
N Engl J Med 2018; doi:10.1056/NEJMoal800474 (11 October 2018) - Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
Jamie M. Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst
bioRxiv 2018; doi:10.1101/438838 (10 October 2018) - Challenges in implementing genomic medicine: the 100,000 Genomes Project
Julian G. Barwell, Rory B.G. O’Sullivan, Laura K. Mansbridge, Joanna M. Lowry, Huw R. Dorkins
J Transl Genet Genom 2018;2:13; https://doi.org/10.20517/jtgg.2018.17 (11 September 2018) - What will follow the first hundred thousand genomes in the NHS?
Malcolm Grant & John Paul Maytum
Per Med 2018; doi:10.2217/pme-2018-0025 (20 June 2018) - Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
Jenny Klintman, Katerina Barmpouti, Samantha JL Knight et al.
Br J Haematol 2018; doi:10.1111/bjh.15406 (29 May 2018) - The 100,000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull, Richard H Scott, Ellen Thomas et al.
BMJ 2018;361:k1687 (24 April 2018) - Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Stefan Gräf, Matthias Haimel, Marta Bleda et al.
Nat Comm 2018;9;1416 (12 April 2018) - Genomics—an aid to diagnosis not a replacement
Ingrid Torjesen
BMJ 2018;360:k1267 (23 March 2018) - Introducing Whole Genome Sequencing into routine cancer care: The Genomics England 100,000 Genomes project
Clare Turnbull, On behalf of Genomics England and the 100,000 Genomes project
Ann Oncol 2018;29:784–7 (15 February 2018) - Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Pauline Robbe, Niko Popitsch, Samantha JL Knight et al.
Genet Med 2018; doi:10.1038/gim.2017.241 (01 February 2018) - Introducing genomics into cancer care
Sue Hill
BRJ Surg 2018;105:e14–e15 (17 January 2018) - Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study
Saskia C. Sanderson PhD, Celine Lewis PhD, Christine Patch PhD, Melissa Hill PhD, Maria Bitner-Glindzicz MBBS, PhD & Lyn S. Chitty PhD MRCOG
Genetics in Medicine2018; doi:10.1056/NEJMoal800474 (01 October 2018)
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;20:320–8 (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 2018;39:80–91 (17 October 2017) - Commit to talks on patient data and public health
Vivienne Parry
Nature 2017;548:137 (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;389:1603–4 (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;135:339–47 (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;38:704–15 (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;25:659–61 (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)
2016
- 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;174:257–8 (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;5:7–11 (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;102:105–7 (9 December 2016)
2015
- 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;7:290ps13 (03 June 2015)
Useful links
A crowdsourcing tool for the scientific and clinical community to share, download, view and evaluate gene panels.
GeCIP members and GMC staff can nominate a rare disease or tumour type to include in the Project, or propose a change to existing eligibility criteria.
Current research projects granted access to the 100,000 Genomes Project dataset.
Publications arising from the Project, plus how to cite the Project.
Find out about the NHS Genomic Medicine Centres (GMCs) that are recruiting participants.
Short videos from people who have taken part in the Project.
