ArticleNational science review2024
Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.
Article in National science review, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
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- Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.Genes · 2025Article
- Effects of Exercise Addiction and theGenes · 2025Article
- Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.European journal of neurology · 2025Article
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- TheGenes · 2025Article
- From Genes to Disease: ReassessingInternational journal of molecular sciences · 2025Article
- T330M Substitution in the Sodium-Dependent Phosphate Transporter NaPi2b Abolishes the Efficacy of Monoclonal Antibodies Against MX35 Epitope.Antibodies (Basel, Switzerland) · 2025Article
- Quantitative Analysis of Pseudogene-Associated Errors During Germline Variant Calling.International journal of molecular sciences · 2025Article
- Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.Frontiers in medicine · 2025Article
- Case Report: Novel variants in theFrontiers in immunology · 2025Article
- EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.Frontiers in endocrinology · 2025Article
- Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters.Biomedicines · 2024Article
- Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.International journal of molecular sciences · 2024Article
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.Nature communications · 2024Article
- Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.Physiological reports · 2024Article
- Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.Briefings in bioinformatics · 2024Review
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as the Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency is often more informative than the global one. Many countries and regions, including Russia, remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct RUSeq, an open, large-scale reference set of genetic variants by analyzing 7452 exome samples collected in two major Russian cities-Moscow and St. Petersburg. An ∼10-fold increase in sample size compared to previous studies allowed us to characterize extensive genetic diversity within the admixed Russian population with contributions from several major ancestral groups. We highlight 51 known pathogenic variants that are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite being annotated as pathogenic in ClinVar and falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.