ArticlePLoS genetics2019
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans.Communications biology · 2026Article
- Genetic structure and selective signatures revealed by whole genome sequencing in potato grouper (Epinephelus tukula).BMC genomics · 2026Article
- Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.Scientific reports · 2025Article
- Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.Communications biology · 2025Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- Genetic Diversity and Environmental Adaptation Signatures of the Great Seahorse (International journal of molecular sciences · 2025Article
- A bioinformatic analysis of gene editing off-target loci altered by common polymorphisms, using 'PopOff'.Journal of the Royal Society of New Zealand · 2025Article
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.European journal of human genetics : EJHG · 2024Article
- Regionally enriched rare deleterious exonic variants in the UK and Ireland.Nature communications · 2024Article
- Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.American journal of human genetics · 2023Article
- The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Communications biology · 2023Article
- Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.European journal of human genetics : EJHG · 2023Article
- VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry.International journal of population data science · 2023Observational
- Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.PLoS genetics · 2022Article
- Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Contribution of common risk variants to multiple sclerosis in Orkney and Shetland.European journal of human genetics : EJHG · 2021Article
- Rare Missense Functional Variants atNeurology · 2021Article
- Where Are the Disease-Associated eQTLs?Trends in genetics : TIG · 2021Review
- Genetic variability in COVID-19-related genes in the Brazilian population.Human genome variation · 2021Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift can result in higher frequencies of variants that are otherwise rare. We present the first whole genome sequencing (WGS) study of the VIKING cohort, a representative collection of samples from the isolated Shetland population in northern Scotland, and explore how its genetic characteristics compare to a mainland Scottish population. Our analyses reveal the strong contributions played by the founder effect and genetic drift in shaping genomic variation in the VIKING cohort. About one tenth of all high-quality variants discovered are unique to the VIKING cohort or are seen at frequencies at least ten fold higher than in more cosmopolitan control populations. Multiple lines of evidence also suggest relaxation of purifying selection during the evolutionary history of the Shetland isolate. We demonstrate enrichment of ultra-rare VIKING variants in exonic regions and for the first time we also show that ultra-rare variants are enriched within regulatory regions, particularly promoters, suggesting that gene expression patterns may diverge relatively rapidly in human isolates.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.