ArticleEuropean journal of human genetics : EJHG2013
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
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 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multicohort analysis of the maternal age effect on recombination.Nature communications · 2015Pooled it
- 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
- A Complete Picture of theInternational journal of molecular sciences · 2025Article
- Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts.Frontiers in genetics · 2025Article
- Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort.Biomedicines · 2024Article
- Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study.Journal of clinical medicine · 2023Article
- Characterization of Danube Swabian population samples on a high-resolution genome-wide basis.BMC genomics · 2023Article
- High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.Journal of personalized medicine · 2022Article
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- The genetic structure of Norway.European journal of human genetics : EJHG · 2021Article
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
- Y-chromosome variability and genetic history of Commons from Northern Italy.American journal of physical anthropology · 2021Article
- Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy.Scientific reports · 2021Article
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- Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.European journal of human genetics : EJHG · 2018Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
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- Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern.Frontiers in genetics · 2018Article
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.Nature communications · 2017Article
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40 authors.
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Abstract
Population genetic studies on European populations have highlighted Italy as one of genetically most diverse regions. This is possibly due to the country's complex demographic history and large variability in terrain throughout the territory. This is the reason why Italy is enriched for population isolates, Sardinia being the best-known example. As the population isolates have a great potential in disease-causing genetic variants identification, we aimed to genetically characterize a region from northeastern Italy, which is known for isolated communities. Total of 1310 samples, collected from six geographically isolated villages, were genotyped at >145000 single-nucleotide polymorphism positions. Newly genotyped data were analyzed jointly with the available genome-wide data sets of individuals of European descent, including several population isolates. Despite the linguistic differences and geographical isolation the village populations still show the greatest genetic similarity to other Italian samples. The genetic isolation and small effective population size of the village populations is manifested by higher levels of genomic homozygosity and elevated linkage disequilibrium. These estimates become even more striking when the detected substructure is taken into account. The observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns, thus proving the status of an isolate.
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