ArticleEuropean journal of human genetics : EJHG2013
Small effective population size and genetic homogeneity in the Val Borbera isolate.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
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
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.PloS one · 2016Pooled it
- Multicohort analysis of the maternal age effect on recombination.Nature communications · 2015Pooled it
- Influence of family history on penetrance of hereditary cancers in a population setting.EClinicalMedicine · 2023Article
- Historical Mitogenomic Diversity and Population Structuring of Southern Hemisphere Fin Whales.Genes · 2023Article
- Characterization of Danube Swabian population samples on a high-resolution genome-wide basis.BMC genomics · 2023Article
- Is there still evolution in the human population?Biologia futura · 2022Review
- Design and validation of a 63K genome-wide SNP-genotyping platform for caribou/reindeer (Rangifer tarandus).BMC genomics · 2022Article
- Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.Human reproduction (Oxford, England) · 2021Article
- Y-chromosome variability and genetic history of Commons from Northern Italy.American journal of physical anthropology · 2021Article
- Analysis of ItalianCancers · 2021Article
- Article
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.Nature communications · 2017Article
- Article
- The impact of rare and low-frequency genetic variants in common disease.Genome biology · 2017Review
- Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.Scientific reports · 2017Article
- Effects of distribution of infection rate on epidemic models.Physical review. E · 2016Article
- Extensive genome-wide autozygosity in the population isolates of Daghestan.European journal of human genetics : EJHG · 2015Article
- Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.Nature communications · 2014Article
- Using population isolates in genetic association studies.Briefings in functional genomics · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Population isolates are a valuable resource for medical genetics because of their reduced genetic, phenotypic and environmental heterogeneity. Further, extended linkage disequilibrium (LD) allows accurate haplotyping and imputation. In this study, we use nuclear and mitochondrial DNA data to determine to what extent the geographically isolated population of the Val Borbera valley also presents features of genetic isolation. We performed a comparative analysis of population structure and estimated effective population size exploiting LD data. We also evaluated haplotype sharing through the analysis of segments of autozygosity. Our findings reveal that the valley has features characteristic of a genetic isolate, including reduced genetic heterogeneity and reduced effective population size. We show that this population has been subject to prolonged genetic drift and thus we expect many variants that are rare in the general population to reach significant frequency values in the valley, making this population suitable for the identification of rare variants underlying complex traits.
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.