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Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.

Genomics - 1 Jan 2026

Fanidis Dionysios, Moutsouri Eirini, Malatras Apostolos, Shuldiner Alan R, Alkelai Anna, Polydorou Christiana, Papagregoriou Gregory, Deltas Constantinos

Abstract excerpt

Understanding a population's genetic landscape is essential for the effective implementation of precision medicine strategies. Leveraging exome sequencing data from biobank.cy general-population participants, we assessed the prevalence of medically actionable variants based on ACMG recommendations. To minimize classifier-specific bias, we applied three complementary pathogenicity assignment methods shaping a core...

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Cyprus
LDLR gene
PALB2 gene
RYR1 gene
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41360272
DOI: 10.1016/j.ygeno.2025.111169

Genes

HNF1A
LDLR
PALB2
RYR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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