Research output per year
Research output per year
Personal profile
Overview
My group applies genomics, transcriptomics, bioinformatics, computational biology and functional biology to understand normal cell/tissue function and to the study of genetic diseases, including rare genomic disorders and cancer.
We are based at the Manchester Centre for Genomic Medicine at the North West Genomic Laboratory Hub, and closely aligned to the application of new technologies and software in healthcare genomics. We are particularly interested in studying the non-coding genome and understanding how common, rare and combinations of variants impact gene expression.
My group
Current Team
Charlie Rowlands - PhD Student
David Green - PhD Student
Alex Blakes - Academic Clinical Fellow
Alumni (Publications in links)
Bradley Horn - Master's Student (a, b)
Joe Nolan - Master's Student
Beatriz Gomes-Silva - Master's Student (a)
Patrick Campbell - Academic Clinical Fellow (a)
Opportunities
Masters Projects
I offer Master's research projects on the following courses:
- MSc Genomic Medicine
- MSc Bioinformatics and Systems Biology
PhD projects
Self-funded opportunities are available here.
Media contributions and coverage
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Genomics England Research Consortium, 6 Jan 2024, In: Genome Medicine. 16, 1, p. 7Research output: Contribution to journal › Article › peer-review
Open Access -
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen, Y., Dawes, R., Kim, H. C., Stenton, S. L., Walker, S., Ljungdahl, A., Lord, J., Ganesh, V. S., Ma, J., Martin-Geary, A. C., Lemire, G., D'Souza, E. N., Dong, S., Ellingford, J. M., Adams, D. R., Allan, K., Bakshi, M., Baldwin, E. E., Berger, S. I. & Bernstein, J. A. & 77 others, , 9 Apr 2024, In: medRxiv.Research output: Contribution to journal › Article
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Systematic reanalysis of copy number losses of uncertain clinical significance
Burghel, G. J., Ellingford, J. M., Wright, R., Bradford, L., Miller, J., Watt, C., Edgerley, J., Naeem, F. & Banka, S., 11 Apr 2024, In: Journal of Medical Genetics. p. jmg-2023-109559 109559.Research output: Contribution to journal › Article › peer-review
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A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE
Burghel, G. J., Ellingford, J. M., Wright, R., Bradford, L., Miller, J., Watt, C., Edgerley, J., Naeem, F. & Banka, S., 19 Jul 2023, Cold Spring Harbor Laboratory Press, (medRxiv).Research output: Preprint/Working paper › Preprint
Open Access -
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M. & Gillentine, M. A. & 17 others, , 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1414-1435 22 p.Research output: Contribution to journal › Article › peer-review
Open Access
Projects
- 1 Active
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Oxford Nanopore PromethION
Ellingford, J. (PI), Adamson, A. (CoI), Banka, S. (CoI), Black, G. (CoI), Brockhurst, M. (CoI), Coyte, K. (CoI), Gifford, D. (CoI), Hayes, A. (CoI), Hubbard, S. (CoI), Lagator, M. (CoI), Mcdermott, J. (CoI), Newman, W. (CoI), Sergouniotis, P. (CoI), Sharrocks, A. (CoI) & Wedge, D. (CoI)
31/07/23 → 30/07/26
Project: Research
Impacts
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Transforming the management of people with inherited eye disorders: a paradigm for the implementation of genomic medicine
Black, G. (Participant), Sergouniotis, P. (Participant), Ellingford, J. (Participant) & (Participant)
Impact: Health and wellbeing, Society and culture
Datasets
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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
Sergouniotis, P. (Contributor), Barton, S. J. (Contributor), Waller, S. (Contributor), Perveen, R. (Contributor), Ellingford, J. (Contributor), Campbell, C. J. (Contributor), Hall, G. (Contributor), Rachel, G. (Contributor), Bhaskar, S. (Contributor), Ramsden, S. (Contributor), Black, G. (Contributor) & Lovell, S. (Contributor), figshare , 14 Sept 2016
DOI: 10.6084/m9.figshare.c.3605783.v1, https://figshare.com/collections/The_role_of_small_in-frame_insertions_deletions_in_inherited_eye_disorders_and_how_structural_modelling_can_help_estimate_their_pathogenicity/3605783/1
Dataset
Thesis
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Informatics strategies for the analysis and interpretation of high-throughput DNA sequencing datasets
Ellingford, J. (Author), Black, G. (Supervisor) & Lamb, J. (Supervisor), 1 Aug 2017Student thesis: Phd
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