168 results on '"Glotov, Andrey S."'
Search Results
2. Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
3. Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
4. Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers
5. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
6. Diagnostics of preeclampsia based on Congo red binding to urinary components: Rationales and limitations
7. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
8. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets
9. Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study
10. Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.
11. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
12. Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
13. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
14. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
15. The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
16. Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience
17. Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
18. Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders
19. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
20. Evaluating chromosomal segregation in a family where both spouses carry an autosomal translocation.
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. Plasma miRNA Profile in High Risk of Preterm Birth during Early and Mid-Pregnancy
24. Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
25. Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation
26. Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
27. Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives
28. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
29. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
30. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
31. Additional file 1 of Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
32. Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison
33. High-Throughput Sequencing of Circulating MicroRNAs in Plasma and Serum during Pregnancy Progression
34. Genetics of macrovascular complications in type 2 diabetes
35. AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance
36. National Association of Biobanks and Biobanking Specialists: New Community for Promoting Biobanking Ideas and Projects in Russia
37. 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
38. Pharmacogenetics of Type 2 Diabetes—Progress and Prospects
39. A Data-Driven Review of the Genetic Factors of Pregnancy Complications
40. Genome-wide sequence analyses of ethnic populations across Russia
41. Protein Misfolding during Pregnancy: New Approaches to Preeclampsia Diagnostics
42. Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities
43. Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
44. Polymorphisms in xenobiotic-metabolizing genes and the risk of chronic lymphocytic leukemia and non-Hodgkinʼs lymphoma in adult Russian patients
45. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
46. Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes
47. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
48. Analytical “bake-off” of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis
49. Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling
50. Genetic determination of the vascular reactions in humans in response to the diving reflex
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