Further Research Outputs

Genomics England is proud to display the research conducted as part of the 100,000 Genomes Project. If you are aware of any additional research outputs through presentations, abstracts and posters at conferences that contain or support the 100,000 Genomes Project data, please contact us.

If you are planning on attending a conference to present your research on the 100,000 Genomes Project or its data please get contact the GeCIP team. We may even tweet about your work or be attending the same conference.

See below for the full list of citable research outputs from conferences the 100,000 Genomes Project data has been presented at. You can also find the full list of journal publications that include the 100,000 Genomes Project and its data on our Publications page.

If you are presenting research 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.

If you wish to bring out data from within the Research Environment before your presentation you will need to go through the Airlock process beforehand. This requires having a research project registered in the Research Registry for at least three months before you can export data under your project. Airlock requests may also take up to 10 working days to be reviewed. See our Airlock Policy for more details about our procedures.

Please also see our Publication Policy for further guidance.

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 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.

The following are outputs from research conferences on the 100,000 Genomes Project data that count as publications and can be cited:


IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS Eric Olinger, Intisar Al Alawi, Elisa Molinari, et al. Nephrology Dialysis Transplantation, doi: 10.1093/ndt/gfab080.0011 (29/05/2021)

PATHOGENIC VARIANTS IN CHLORIDE VOLTAGE-GATED CHANNEL 5 (CLCN5), ASSOCIATED WITH DENT DISEASE TYPE 1, SHOULD BE CONSIDERED IN END-STAGE KIDNEY DISEASE OF UNKNOWN AETIOLOGY Gary Leggatt, Christine Gast, Rodney Gilbert, et al. Nephrology Dialysis Transplantation, doi: 10.1093/ndt/gfab080.0020 (29/05/2021)