Thesis
Characterising structural variants in patients with craniosynostosis using short-read and long-range technologies
- Abstract:
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Background: Structural variants (SVs) are large genomic alterations that can span from 50, to millions of base pairs, with potential clinical implications depending on their location and consequence. Characterisation and interpretation of SVs through conventional methods remain challenging due to both experimental and computational limitations. In contrast, emerging long-range technologies, such as Bionano Optical Genome Mapping (OGM) and Oxford Nanopore Technology (ONT), ...
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- Files:
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(Figures/images, zip, 69.1MB, Terms of use)
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(Preview, Dissemination version, pdf, 77.0MB, Terms of use)
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Authors
Contributors
+ Wilkie, A
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- RDM
- Sub department:
- Weatherall Insti. of Molecular Medicine
- Research group:
- Wilkie Group: Clinical Genetics
- Role:
- Supervisor
- ORCID:
- 0000-0002-2972-5481
+ Twigg, S
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- RDM
- Sub department:
- Weatherall Insti. of Molecular Medicine
- Role:
- Supervisor
- ORCID:
- 0000-0001-5024-049X
+ Gibbons, R
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- RDM
- Sub department:
- Weatherall Insti. of Molecular Medicine
- Research group:
- Gibbons Group: ATRX Group
- Role:
- Supervisor
- ORCID:
- 0000-0002-7680-9311
+ Taylor, J
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- NDM
- Sub department:
- Human Genetics Wt Centre
- Research group:
- Taylor group: Translational Genomics
- Role:
- Examiner
- ORCID:
- 0000-0003-3602-5704
+ Beggs, A
- Institution:
- University of Birmingham
- Research group:
- Institute of Cancer and Genomic Sciences
- Role:
- Examiner
+ Medical Research Council
More from this funder
- Funder identifier:
- https://ror.org/03x94j517
- Funding agency for:
- Wilkie, A
- Grant:
- MR/T031670/1
- Programme:
- Uncovering new mechanisms of craniosynostosis associated with structural and copy number variation, using mouse modelling and human neural crest cells
- DOI:
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- University of Oxford
- Language:
-
English
- Keywords:
- Subjects:
- Pubs id:
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1997046
- Local pid:
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pubs:1997046
- Deposit date:
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2024-05-14
- ARK identifier:
Terms of use
- Copyright holder:
- Pei, Y
- Copyright date:
- 2024
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