47 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. Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
4. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
5. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
6. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets
7. Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study
8. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
9. Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
10. Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.
11. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
12. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
13. The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
14. P444: SINGLE CELL RNASEQ UNCOVERING THE ROLE OF A LEUKEMIC DRIVER GENE FUSION CBFΒ::MYH11 IN THE LEUKEMIC–NICHE SIGNALING
15. Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders
16. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
17. Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits
18. Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs
19. Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies
20. Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications
21. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [PSI+] Cells
22. Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
23. Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives
24. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
25. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
26. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
27. Additional file 1 of Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
28. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [ PSI + ] Cells.
29. Differential Interactions of Molecular Chaperones and Yeast Prions
30. Gene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes
31. Development of SNP Set for the Marker-Assisted Selection of Guar (Cyamopsis tetragonoloba (L.) Taub.) Based on a Custom Reference Genome Assembly
32. Direct proof of the amyloid nature of yeast prions [PSI+] and [PIN+] by the method of immunoprecipitation of native fibrils
33. Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage
34. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing
35. Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome
36. A Data-Driven Review of the Genetic Factors of Pregnancy Complications
37. Quantitative assessment of chaperone binding to amyloid aggregates identifies specificity of Hsp40 interaction with yeast prion fibrils
38. Estimation of amyloid aggregate sizes with semi-denaturing detergent agarose gel electrophoresis and its limitations
39. Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
40. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
41. Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes
42. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
43. Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size
44. Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling
45. To CURe or not to CURe? Differential effects of the chaperone sorting factor Cur1 on yeast prions are mediated by the chaperone Sis1
46. SFP1-mediated prion-dependent lethality is caused by increased Sup35 aggregation and alleviated by Sis1
47. Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.
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