ArticleMolecular genetics & genomic medicine2019
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.Genes · 2025Article
- The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.International journal of molecular sciences · 2024Article
- Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.International journal of molecular sciences · 2024Article
- Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.National science review · 2024Article
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.Current issues in molecular biology · 2024Article
- Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.Briefings in bioinformatics · 2024Review
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- Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.Journal of personalized medicine · 2023Review
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
- Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.International journal of molecular sciences · 2022Article
- Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.International journal of molecular sciences · 2022Review
- Estimation of hereditary fructose intolerance prevalence in the Chinese population.Orphanet journal of rare diseases · 2022Review
- RAREsim: A simulation method for very rare genetic variants.American journal of human genetics · 2022Article
- Article
- Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.BMC genomics · 2022Article
- Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.Frontiers in genetics · 2022Article
- Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.Frontiers in genetics · 2021Article
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13 authors.
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Abstract
backgroundAllele frequency data from large exome and genome aggregation projects such as the Genome Aggregation Database (gnomAD) are of ultimate importance to the interpretation of medical resequencing data. However, allele frequencies might significantly differ in poorly studied populations that are underrepresented in large-scale projects, such as the Russian population.
methodsIn this work, we leveraged our access to a large dataset of 694 exome samples to analyze genetic variation in the Northwest Russia. We compared the spectrum of genetic variants to the dbSNP build 151, and made estimates of ClinVar-based autosomal recessive (AR) disease allele prevalence as compared to gnomAD r. 2.1.
resultsAn estimated 9.3% of discovered variants were not present in dbSNP. We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies. We also make primary estimates of monogenic disease incidence in the population, with retinal dystrophy, cystic fibrosis, and phenylketonuria being the most frequent AR pathologies.
conclusionOur observations demonstrate the utility of population-specific allele frequency data to the diagnosis of monogenic disorders using high-throughput technologies.
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