35 results on '"Barbitoff, Yury A."'
Search Results
2. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
3. Structure and Polymorphism of Amyloid and Amyloid-Like Aggregates
4. Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
5. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
6. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
7. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets
8. Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study
9. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes
10. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
11. Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
12. Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.
13. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
14. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
15. The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
16. P444: SINGLE CELL RNASEQ UNCOVERING THE ROLE OF A LEUKEMIC DRIVER GENE FUSION CBFΒ::MYH11 IN THE LEUKEMIC–NICHE SIGNALING
17. Negligible effects of read trimming on the accuracy of germline short variant calling in the human genome
18. Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders
19. Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs
20. Prospects for biobanking in reproductive health: genetic aspects
21. Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies
22. Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications
23. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [PSI+] Cells
24. Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
25. Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives
26. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
27. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
28. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
29. Additional file 1 of Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
30. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [ PSI + ] Cells.
31. Differential Interactions of Molecular Chaperones and Yeast Prions
32. Gene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes
33. Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples
34. Development of SNP Set for the Marker-Assisted Selection of Guar (Cyamopsis tetragonoloba (L.) Taub.) Based on a Custom Reference Genome Assembly
35. Direct proof of the amyloid nature of yeast prions [PSI+] and [PIN+] by the method of immunoprecipitation of native fibrils
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