ArticleGenome medicine2014
Using genetically isolated populations to understand the genomic basis of disease.
Article in Genome medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-Wide Meta-Analysis of Sciatica in Finnish Population.PloS one · 2016Pooled it
- An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.Clinical genetics · 2026Article
- Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.Human molecular genetics · 2025Article
- Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.Cureus · 2025Article
- Genome wide association study and genomic risk prediction of age related macular degeneration in Israel.Scientific reports · 2024Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Perspectives on genetic studies of type 2 diabetes from the genome-wide association studies era to precision medicine.Journal of diabetes investigation · 2024Review
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- Rare coding variants in CHRNB2 reduce the likelihood of smoking.Nature genetics · 2023Article
- Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.Functional & integrative genomics · 2023Review
- Discovering metabolite quantitative trait loci in asthma using an isolated population.The Journal of allergy and clinical immunology · 2022Article
- Populations, Traits, and Their Spatial Structure in Humans.Genome biology and evolution · 2021Review
- Analysis of Diffusion Tensor Imaging Data From the UK Biobank Confirms Dosage Effect of 15q11.2 Copy Number Variation on White Matter and Shows Association With Cognition.Biological psychiatry · 2021Article
- Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy.Scientific reports · 2021Article
- Analysis of ItalianCancers · 2021Article
- Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.Journal of personalized medicine · 2020Article
- Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.PLoS genetics · 2019Article
- Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.Scientific reports · 2019Article
- Genetics in an isolated population like Finland: a different basis for genomic medicine?Journal of community genetics · 2017Article
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.Nature communications · 2017Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approaches coupled with sequencing efforts have transformed the landscape of disease genomics and highlight the potentially significant contribution of studies in founder populations.
Identifiers
What OpenQuestion holds
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.