Next-generation data filtering in the genomics era

W Hemstrom, JA Grummer, G Luikart… - Nature Reviews …, 2024 - nature.com
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 …

Complex trait susceptibilities and population diversity in a sample of 4,145 Russians

D Usoltsev, N Kolosov, O Rotar, A Loboda… - Nature …, 2024 - nature.com
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 …

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples

YA Barbitoff, DN Khmelkova… - National Science …, 2024 - academic.oup.com
Population allele frequency is crucially important for accurate interpretation of known and
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 …

[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 …

The Pioneer Advantage: Filling the blank spots on the map of genome diversity in Europe

TK Oleksyk, WW Wolfsberger, K Schubelka… - …, 2022 - academic.oup.com
Documenting genome diversity is important for the local biomedical communities and
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

EA Albert, OA Kondratieva, EE Baranova… - Frontiers in …, 2023 - frontiersin.org
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 …

[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 …

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia

YA Barbitoff, RK Skitchenko… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Allele frequency data from large exome and genome aggregation projects such
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 …