Author

Carys Pugh

Roslin InstituteORCID 0000-0002-6548-0311Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 2 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:gene regulatory network inference· 1 Research Focus:phylogenetics / evolution· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

James G. D. PrendergastiD· 3 shared David Arthur HumeiD· 2 shared Ian J. DearyiD· 2 shared Sarah E. HarrisiD· 2 shared Adam D. EwingiD· 1 shared Ailsa J Carlisle· 1 shared Alison M. MeynertiD· 1 shared Allan Beveridge· 1 shared

Activity by Year

2019-2019 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenomics

James G. D. PrendergastORCID

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3 papers

Recent·Most cited

GenomicsPLoS GeneticsPeer-reviewedNov 25, 2019

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

Mihail R. Halachev, Alison M. Meynert, Martin S. Taylor…·James F. Wilson

The paper analyzes whole genome sequencing data from an isolated Shetland population, finding increased ultra-rare variants in exonic and regulatory regions compared to mainland Scottish populations.

26 citations

humanwhole-genome sequencing

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GeneticsG3 Genes Genomes GeneticsPeer-reviewedJan 29, 2019

Arginine to glutamine mutation in olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed.

Carys Pugh, Lindsay L. Farrell, Ailsa J Carlisle…·KIM M. SUMMERS

The paper identifies a missense variant in OLFML3 as a candidate for severe goniodysgenesis and glaucoma in Border Collies.

15 citations

whole-genome sequencingstatistical model

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GenomicsGenome Biology and EvolutionPeer-reviewedJan 18, 2019

Linked mutations at adjacent nucleotides have shaped human population differentiation and protein evolution

James G. D. Prendergast, Carys Pugh, Sarah E. Harris…·Allan Beveridge

The paper investigates how linked mutations at adjacent nucleotides, termed sequential dinucleotide mutations, influence human population differentiation and protein evolution.

10 citations

humanwhole-genome sequencing

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