ArticlePloS one2022
Genotype imputation and polygenic score estimation in northwestern Russian population.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Article
- Machine learning prediction of hypertension integrating polygenic risk scores in inner Eurasian populations.Frontiers in cardiovascular medicine · 2026Article
- Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters.Biomedicines · 2024Article
- Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.Nature communications · 2024Article
- Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations.Frontiers in genetics · 2023Article
- GWAS of depression in 4,520 individuals from the Russian population highlights the role ofFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 4 countries.
Funding
Abstract
Numerous studies demonstrated the lack of transferability of polygenic score (PGS) models across populations and the problem arising from unequal presentation of ancestries across genetic studies. However, even within European ancestry there are ethnic groups that are rarely presented in genetic studies. For instance, Russians, being one of the largest, diverse, and yet understudied group in Europe. In this study, we evaluated the reliability of genotype imputation for the Russian cohort by testing several commonly used imputation reference panels (e.g. HRC, 1000G, HGDP). HRC, in comparison with two other panels, showed the most accurate results based on both imputation accuracy and allele frequency concordance between masked and imputed genotypes. We built polygenic score models based on GWAS results from the UK biobank, measured the explained phenotypic variance in the Russian cohort attributed to polygenic scores for 11 phenotypes, collected in the clinic for each participant, and finally explored the role of allele frequency discordance between the UK biobank and the study cohort in the resulting PGS performance.
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Registered trials
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 OpenQuestion graph.