ArticleNature communications2017
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed.
- Gene Regulatory Programs of NK Cells Show That NCAM1 (CD56) and KIRs Are Controlled by Genetically Polymorphic Distal Regulatory Elements.European journal of immunology · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI.BMC genomics · 2025Article
- Diverse ancestral representation improves genetic intolerance metrics.Nature communications · 2025Article
- Regionally enriched rare deleterious exonic variants in the UK and Ireland.Nature communications · 2024Article
- Human genetic structure in Northwest France provides new insights into West European historical demography.Nature communications · 2024Article
- Measuring the Efficiency of Purging by non-random Mating in Human Populations.Molecular biology and evolution · 2024Article
- Predisposing deleterious variants in the cancer-associated human kinases in the global populations.PloS one · 2024Article
- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
- The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Communications biology · 2023Article
- Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study.Journal of clinical medicine · 2023Article
- Genomic Insights into the Population History of the Resande or Swedish Travelers.Genome biology and evolution · 2023Article
- Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.Communications biology · 2023Article
- Article
- Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.BMC genomic data · 2022Article
- Fine-Scale Genetic Structure in the United Arab Emirates Reflects Endogamous and Consanguineous Culture, Population History, and Geography.Molecular biology and evolution · 2022Article
- The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees.Frontiers in genetics · 2022Article
- Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Funding
Abstract
The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can help leverage these advantageous characteristics. Here, we perform a comprehensive investigation using 3,059 newly generated low-depth whole-genome sequences from eight European isolates and two matched general populations, together with published data from the 1000 Genomes Project and UK10K. Sequencing data give deeper and richer insights into population demography and genetic characteristics than genotype-chip data, distinguishing related populations more effectively and allowing their functional variants to be studied more fully. We demonstrate relaxation of purifying selection in the isolates, leading to enrichment of rare and low-frequency functional variants, using novel statistics, DVxy and SVxy. We also develop an isolation-index (Isx) that predicts the overall level of such key genetic characteristics and can thus help guide population choice in future complex-trait association studies.
Indexed as
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.