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:
2021
IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS 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.
2020
- Unusual intraneural tumour harbouring EWSR1-NFATC2 fusion: a case report S. De Noon*, R. Tirabosco, P. O’Donnell, A. Flanagan, F. Amary
Congress of the ESP and XXXIII International Congress of the IAP DOI: 10.1007/s00428-020-02938-x. (December 2020) - National Genomic Healthcare Strategy: a view from Genomics England Richard Scott FERTILITY, GENOMICS AND COVID-19 online conference (5th December 2020)
- First ESWR1-SMAD3 rearranged tumour arising in bone: expanding the clinical and histological spectrum of this emerging tumour type (case presentation) S. De Noon*, R. Tirabosco, P. O’Donnell, A. Flanagan, F. Amary European Society of Pathology (ESP) 33rd European Congress of Pathology (25 November 2020)
- Molecular stratification: Beyond TCGA David Church AACR Virtual Special Conference: Endometrial Cancer: New Biology Driving Research and Treatment (November 9-10, 2020)
- Feasibility of linking the UK 100,000 genomes project and real-world evidence databases for a melanoma patient population E. Scherrer, G.M. Hair, S. Mt-Isa et al. on behalf of the MSD-GeCIP collaboration European Society for Medical Oncology (ESMO) virtual meeting 2020
- High content high resolution confocal imaging to determine fluorescent ligand binding and internalisation in apelin receptor variants identified in human patients with rare cardiovascular diseases T L Williams, R Kuc, D Nyimanu, et al. British Society for Cardiac Research Autumn meeting 5th February 2020
2019
- Delivering the 100,000 genomes project to establish the functional role of DNA sequence variants in respiratory rare diseases CL Shovlin, DJ Morris-Rosendahl, F Copeland, et al., British Thoracic Society Winter Meeting 4th-6th December 2019
- Capillary carbon dioxide as a measure of disease severity in acute bronchiolitis SA Unger, C Halliday, A Ziaie, S Cunningham; British Thoracic Society Winter Meeting 4th-6th December 2019
- Identifying new hereditary haemorrhagic telangiectasia genes by applying a machine learning approach to screen whole genome sequencing data S Xiao, D Brown, IG Mollet, et al., British Thoracic Society Winter Meeting 4th-6th December 2019
- Use of pathological phenotype to determine optimal management for moderate to severe preschool wheeze Y Bingham, J Moreiras, S Goldring, et al., British Thoracic Society Winter Meeting 4th-6th December 2019
- Genomics MDMs need YOU! the changing shape of genomic data interpretation and reporting Savita Nutan, Clinda Puvirajasinghe, Emma Clement Great Ormond Street Hospital (GOSH) Conference 22nd November 2019
- Looking beyond no primary findings in the 100,000 genomes project: can additional bioinformatics analysis reveal diagnoses? Eleanor Hay, Deborah Morrogh, Emma Clement, et al. Great Ormond Street Hospital (GOSH) Conference 22nd November 2019
- Genomics MDMs need YOU! the changing shape of genomic data interpretation and reporting Savita Nutan, Clinda Puvirajasinghe, Emma Clement Great Ormond Street Hospital (GOSH) Conference 22nd November 2019
- Clinical-Grade Whole Genome Sequencing Reproduces FISH Cytogenetics and Provides Actionable Data in Newly Diagnosed Myeloma – a Pilot Study from the UK 100,000 Genomes Project Oliver Lomas, Sarah Gooding, Karthik Ramasamy American Society of Haematology Annual Meeting November 2019
- Update on familial thoracic aortic aneurysm disease in the 100,000 genomes project: space for discovery Francis, Catherine; British Cardiovascular Society Annual Conference 3–5th June 2019
- Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa Farid Afshar, Gavin Arno, Rola Ba-Abbad, et al., The Association for Research in Vision and Ophthalmology (ARVO) 28th April – 2nd May 2019
2018
- The preliminary results from the 100,000 Genomes Project: the genomic landscape of colorectal cancer William Cross, Giulio Caravagna, Jacob Houseman et al., The National Cancer Research Institute (NCRI) Conference 4th November 2018
- Genome wide discoveries in 13,000 whole genome sequenced rare disease cases and controls Kathleen Stirrups American Society of Human Genetics (ASHG) 16th October 2018
- Uncovering pathogenic variants in the non-coding genome through the UK 100,000 Genomes Project J.M. Ellingford; H. Thomas; G. Arno; et al. American Society of Human Genetics (ASHG) 16th October 2018
- Using Exomiser for rare disease variant interpretation at scale in the 100,000 Genomes Project D. Smedley; J.O. Jacobsen; A.R. Martin; et al. American Society of Human Genetics (ASHG) 16th October 2018
- Identifying genomic regions susceptible to systematic sequencing error to improve variant detection Timothy M. Freeman, Dr Dennis Wang, Dr Jason Harris; Genome Infomatics Conference 24th September 2018
- Developing a Test Directory for Rare and Inherited Disease Genomic Testing in the National Health Service in England R. H. Scott, E. R. A. Thomas, L. Modiano, et al. European Society of Human Genetics Conference 16-19th June 2018
2017
- Genomics England’s 100,000 Genome Project: Where Do Brain Tumours Fit In? Prof Keyoumars Ashkan and Prof Richard Houlston, British Neuro-Oncology Society 2nd March 2017
