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Article

Small effective population size and genetic homogeneity in the Val Borbera isolate.

European journal of human genetics : EJHG - 1 Jan 2013

Colonna Vincenza, Pistis Giorgio, Bomba Lorenzo, Mona Stefano, Matullo Giuseppe, Boano Rosa, Sala Cinzia, Viganò Fiammetta, Torroni Antonio, Achilli Alessandro, Hooshiar Kashani Baharak, Malerba Giovanni, Gambaro Giovanni, Soranzo Nicole, Toniolo Daniela

Abstract excerpt

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...

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Identifiers

PMID: 22713810
DOI: 10.1038/ejhg.2012.113
PMCID: PMC3522197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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