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Article

Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.

International journal of molecular sciences - 13 Jun 2026

Suvorova Yulia, Monakhova Aleksandra, Chekanov Nikolay, Musharova Olga, Moskovkina Elizaveta, Zaigrin Igor, Antonov Ivan, Klimchuk Olesia, Pustoshilov Dmitry, Zorina Daria, Klimuk Evgeny, Severinov Konstantin

Abstract excerpt

Genomic sequencing can reveal potentially life-threatening clinically actionable secondary findings in healthy individuals. Little is known about the spectrum and frequency of secondary findings in healthy people in Russia. Here, we analyzed whole-genome sequences of 42,826 healthy volunteers from urban populations across Russia, focusing on known pathogenic and likely pathogenic variants of 81 genes associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42353063
DOI: 10.3390/ijms27125344
PMCID: PMC13299624

Genes

BRCA1
BRCA2
LDLR
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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