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Next-generation data filtering in the genomics era
Genomic data are ubiquitous across disciplines, from agriculture to biodiversity, ecology,
evolution and human health. However, these datasets often contain noise or errors and are …
evolution and human health. However, these datasets often contain noise or errors and are …
Complex trait susceptibilities and population diversity in a sample of 4,145 Russians
The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and
geographic origins, which extend from eastern Europe to Asia, make the population …
geographic origins, which extend from eastern Europe to Asia, make the population …
Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples
Population allele frequency is crucially important for accurate interpretation of known and
novel variants in medical genetics. Recently, several large allele frequency databases, such …
novel variants in medical genetics. Recently, several large allele frequency databases, such …
Targeted sequencing of 242 clinically important genes in the Russian population from the ivanovo region
VE Ramensky, AI Ershova, M Zaicenoka… - Frontiers in …, 2021 - frontiersin.org
We performed a targeted sequencing of 242 clinically important genes mostly associated
with cardiovascular diseases in a representative population sample of 1,658 individuals …
with cardiovascular diseases in a representative population sample of 1,658 individuals …
[HTML][HTML] The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population
GA Yanus, EN Suspitsin, EN Imyanitov - International Journal of …, 2024 - mdpi.com
There are more than 260 million people of Slavic descent worldwide, who reside mainly in
Eastern Europe but also represent a noticeable share of the population in the USA and …
Eastern Europe but also represent a noticeable share of the population in the USA and …
The Pioneer Advantage: Filling the blank spots on the map of genome diversity in Europe
Documenting genome diversity is important for the local biomedical communities and
instrumental in develo** precision and personalized medicine. Currently, tens of …
instrumental in develo** precision and personalized medicine. Currently, tens of …
Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations
Genetic data plays an increasingly important role in modern medicine. Decrease in the cost
of sequencing with subsequent increase in imputation accuracy, and the accumulation of …
of sequencing with subsequent increase in imputation accuracy, and the accumulation of …
[HTML][HTML] Hypertrophic cardiomyopathy in underrepresented populations: clinical and genetic landscape based on a russian single-center cohort study
OS Chumakova, TN Baklanova, NV Milovanova… - Genes, 2023 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterized
by marked clinical and genetic heterogeneity. Ethnic groups underrepresented in studies …
by marked clinical and genetic heterogeneity. Ethnic groups underrepresented in studies …
Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
Background Allele frequency data from large exome and genome aggregation projects such
as the Genome Aggregation Database (gnomAD) are of ultimate importance to the …
as the Genome Aggregation Database (gnomAD) are of ultimate importance to the …
[HTML][HTML] Identification of pathogenic variant burden and selection of optimal diagnostic method is a way to improve carrier screening for autosomal recessive diseases
EA Sotnikova, AV Kiseleva, VA Kutsenko… - Journal of Personalized …, 2022 - mdpi.com
Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing
loss are among the most common autosomal recessive diseases, which require carrier …
loss are among the most common autosomal recessive diseases, which require carrier …