Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours
- Submitting institution
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University of the Highlands and Islands
- Unit of assessment
- 3 - Allied Health Professions, Dentistry, Nursing and Pharmacy
- Output identifier
- 14491950
- Type
- D - Journal article
- DOI
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10.1038/s41467-020-16276-8
- Title of journal
- Nature Communications
- Article number
- 2408 (2020)
- First page
- 1
- Volume
- 11
- Issue
- -
- ISSN
- 2041-1723
- Open access status
- Compliant
- Month of publication
- May
- Year of publication
- 2020
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
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34
- Research group(s)
-
-
- Citation count
- 6
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- This manuscript represents the culmination of 8 years of work focused on the recruitment of patients diagnosed with the rare cancer type: uveal melanoma, collection and processing of blood and tumour samples, whole genomic sequencing, bioinformatic analysis and interpretation of the findings in relation to clinical and tumour phenotypic features. Dr Pritchard was involved with the collection and processing of biosamples, organisation, storage and sending of these samples for whole genome sequencing, assessment of the called somatic (tumour) variants, processing of the germline (blood) variants into a usable Excel database and assessment of these calls – and how they related to somatic features. Finally, Dr Pritchard was involved with substantial contribution to writing of the manuscript, focused initially on the first submission (to Nature Genetics), and then the small re-editing required for Nature Communications, followed by assisting in the response to reviewers.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -