POT1 loss-of-function variants predispose to familial melanoma
- Submitting institution
-
University of the Highlands and Islands
- Unit of assessment
- 3 - Allied Health Professions, Dentistry, Nursing and Pharmacy
- Output identifier
- 2498010
- Type
- D - Journal article
- DOI
-
10.1038/ng.2947
- Title of journal
- Nature Genetics
- Article number
- -
- First page
- 478
- Volume
- 46
- Issue
- 5
- ISSN
- 1061-4036
- Open access status
- Out of scope for open access requirements
- Month of publication
- March
- Year of publication
- 2014
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- 5 - Biological Sciences
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
29
- Research group(s)
-
-
- Citation count
- 202
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- This manuscript was the first to be published from our whole exome/whole genome sequencing of large cohorts of familial melanoma collected in the UK (in Leeds, by Julia and Tim) and Australia (Australian Familial Melanoma Project; AFMP). Dr Pritchard was instrumental in the sequencing and analyses of the AFMP, including selection of families and individuals within the families for sequencing, processing and sending DNA samples off for sequencing, and following bioinformatic analyses, compiling the resultant data into usable spreadsheets for interrogation of data. The team uncovered a single family in the AMGP harbouring a POT1 variant, while there were multiple families in the UK cohort. The team performed functional analysis of the effect of the splicing variant in Australia and I was involved in the planning and design of this assessment. Dr Pritchard was involved with the writing and editing of the manuscript and in writing the response to reviewers.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -