Carys Pugh

ACRC Quantitative analyst/Statistician

Usher Institute
College of Medicine and Veterinary Medicine

Email: carys.pugh@ed.ac.uk
Twitter @DrCarysPugh

Usher Institute

Street: Usher Institute – University of Edinburgh
NINE
9 Little France Road
Edinburgh BioQuarter
City: Edinburgh
Post code: EH16 4UX

Research

Research summary

Epidemiology and data science. Interested in collecting and using high quality data to best answer key health questions.

Current research interests

MRC Mental Health Pathfinder Project: Developing a population-based resource for mental health research.

Past research interests

Lothian Birth Cohorts: Worked with Whole Genome Sequencing data from this richly phenotyped cohort. Border Collie goniodysgenesis and glaucoma: Identified a potential causative genetic variant associated with an eye abnormality that can lead to blindness. Dogslife https://www.dogslife.ac.uk: Worked as a PhD student on the first, large-scale cohort study of dogs.

Publications

Loss‐of‐function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase (4 pages) 8 Apr 2020 In: Journal of Bone and Mineral Research, vol. 35, pp. 657-661
DOI: https://doi.org/10.1002/jbmr.3928
Research output: Contribution to Journal › Article (Published)
Using regulatory variants to detect gene-gene interactions identifies networks of genes linked to cell immortalization 17 Jan 2020 In: Nature Communications, vol. 11
DOI: https://doi.org/10.1038/s41467-019-13762-6
Research output: Contribution to Journal › Article (Published)
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions (30 pages) 25 Nov 2019 In: PLoS Genetics, vol. 15, pp. 1-29
DOI: https://doi.org/10.1371/journal.pgen.1008480
Research output: Contribution to Journal › Article (E-pub ahead of print)
Arginine to glutamine variant in olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed 7 Mar 2019 In: G3: Genes | Genomes | Genetics, vol. 9, pp. 943-954
DOI: https://doi.org/10.1534/g3.118.200944
Research output: Contribution to Journal › Article (Published)
Linked mutations at adjacent nucleotides have shaped human population differentiation and protein evolution Mar 2019 In: Genome Biology and Evolution, vol. 11, pp. 759–775
DOI: https://doi.org/10.1093/gbe/evz014
Research output: Contribution to Journal › Article (Published)
Incidence rates and risk factor analyses for owner reported vomiting and diarrhoea in Labrador Retrievers – findings from the Dogslife Cohort 1 May 2017 In: Preventive Veterinary Medicine
DOI: https://doi.org/10.1016/j.prevetmed.2017.02.014
Research output: Contribution to Journal › Article (Published)
Cumulative incidence and risk factors for Limber Tail in the Dogslife Labrador Retriever cohort 27 Jun 2016 In: Veterinary Record, vol. 179, pp. 275-U290
DOI: https://doi.org/10.1136/vr.103729
Research output: Contribution to Journal › Article (E-pub ahead of print)
Validity of Internet-Based Longitudinal Study Data: The elephant in the virtual room 16 Apr 2015 In: Journal of medical Internet research, vol. 17
DOI: https://doi.org/10.2196/jmir.3530
Research output: Contribution to Journal › Article (Published)
DOGSLIFE: A COHORT STUDY OF LABRADOR RETRIEVER HEALTH 2015
Research output: Contribution to Conference › Paper (Published)
Dogslife: a cohort study of Labrador retrievers in the UK 2015 In: Preventive Veterinary Medicine, vol. 122, pp. 426-435
DOI: https://doi.org/10.1016/j.prevetmed.2015.06.020
Research output: Contribution to Journal › Article (Published)

View all 14 publications on Research Explorer

This article was published on 23 Apr, 2024