Search Results - "Kolobkov, Dmitry"

Refine Results
  1. 1
  2. 2

    An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases by Salnikova, Lyubov E., Kolobkov, Dmitry S., Sviridova, Darya A., Abilev, Serikbai K.

    Published in Human genetics (01-09-2021)
    “…Primary immunodeficiencies (PID) are a diverse group of genetic disorders caused by inadequate development and function of immune system. Identifying genetic…”
    Get full text
    Journal Article
  3. 3

    COVID-19 severity: does the genetic landscape of rare variants matter? by Khadzhieva, Maryam B, Gracheva, Alesya S, Belopolskaya, Olesya B, Kolobkov, Dmitry S, Kashatnikova, Darya A, Redkin, Ivan V, Kuzovlev, Artem N, Grechko, Andrey V, Salnikova, Lyubov E

    Published in Frontiers in genetics (29-06-2023)
    “…Rare variants affecting host defense against pathogens may be involved in COVID-19 severity, but most rare variants are not expected to have a major impact on…”
    Get full text
    Journal Article
  4. 4
  5. 5

    Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits by Salnikova, Lyubov E., Khadzhieva, Maryam B., Kolobkov, Dmitry S., Gracheva, Alesya S., Kuzovlev, Artem N., Abilev, Serikbay K.

    Published in Scientific reports (07-09-2020)
    “…Dysregulation in cytokine production has been linked to the pathogenesis of various immune-mediated traits, in which genetic variability contributes to the…”
    Get full text
    Journal Article
  6. 6

    Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids) by Salnikova, Lyubov E., Khadzhieva, Maryam B., Kolobkov, Dmitry S.

    Published in Human genetics (01-07-2016)
    “…Pelvic floor dysfunction, specifically genital prolapse (GP) and stress urinary inconsistency (SUI) presumably co-occur with other connective tissue disorders…”
    Get full text
    Journal Article
  7. 7

    Expression changes in pelvic organ prolapse: a systematic review and in silico study by Khadzhieva, Maryam B., Kolobkov, Dmitry S., Kamoeva, Svetlana V., Salnikova, Lyubov E.

    Published in Scientific reports (09-08-2017)
    “…Pelvic organ prolapse (POP) is a highly disabling condition common for a vast number of women worldwide. To contribute to existing knowledge in POP…”
    Get full text
    Journal Article
  8. 8

    10 K: a large‐scale prospective longitudinal study in Israel by Shilo, Smadar, Bar, Noam, Keshet, Ayya, Talmor-Barkan, Yeela, Rossman, Hagai, Godneva, Anastasia, Aviv, Yaron, Edlitz, Yochai, Reicher, Lee, Kolobkov, Dmitry, Wolf, Bat Chen, Lotan-Pompan, Maya, Levi, Kohava, Cohen, Ori, Saranga, Hila, Weinberger, Adina, Segal, Eran

    Published in European journal of epidemiology (01-11-2021)
    “…The 10 K is a large-scale prospective longitudinal cohort and biobank that was established in Israel. The primary aims of the study include development of…”
    Get full text
    Journal Article
  9. 9

    GRAPE: genomic relatedness detection pipeline [version 2; peer review: 2 approved] by Medvedev, Alexander, Lebedev, Mikhail, Ponomarev, Andrew, Kosaretskiy, Mikhail, Osipenko, Dmitriy, Tischenko, Alexander, Kosaretskiy, Egor, Wang, Hui, Kolobkov, Dmitry, Chamberlain-Evans, Vitalina, Vakhitov, Ruslan, Nikonorov, Pavel

    Published in F1000 research (2023)
    “…Classifying the degree of relatedness between pairs of individuals has both scientific and commercial applications. As an example, genome-wide association…”
    Get full text
    Journal Article
  10. 10

    Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19 by Khadzhieva, Maryam B, Kolobkov, Dmitry S, Kashatnikova, Darya A, Gracheva, Alesya S, Redkin, Ivan V, Kuzovlev, Artem N, Salnikova, Lyubov E

    Published in Biomolecules (Basel, Switzerland) (01-09-2023)
    “…The development of severe COVID-19, which is a complex multisystem disease, is thought to be associated with many genes whose action is modulated by numerous…”
    Get full text
    Journal Article
  11. 11

    Genes and Diseases: Insights from Transcriptomics Studies by Kolobkov, Dmitry S., Sviridova, Darya A., Abilev, Serikbai K., Kuzovlev, Artem N., Salnikova, Lyubov E.

    Published in Genes (28-06-2022)
    “…Results of expression studies can be useful to clarify the genotype-phenotype relationship. However, according to data from recent literature, there is a large…”
    Get full text
    Journal Article
  12. 12
  13. 13

    Efficacy of federated learning on genomic data: a study on the UK Biobank and the 1000 Genomes Project by Kolobkov, Dmitry, Mishra Sharma, Satyarth, Medvedev, Aleksandr, Lebedev, Mikhail, Kosaretskiy, Egor, Vakhitov, Ruslan

    Published in Frontiers in big data (29-02-2024)
    “…Combining training data from multiple sources increases sample size and reduces confounding, leading to more accurate and less biased machine learning models…”
    Get full text
    Journal Article
  14. 14
  15. 15
  16. 16

    Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations by Abilev, Serikbay K., Ivanova, Anastasia V., Kamoeva, Svetlana V., Kolobkov, Dmitry S., Khadzhieva, Maryam B., Salnikova, Lyubov E.

    Published in BioMed research international (01-01-2015)
    “…Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that…”
    Get full text
    Journal Article
  17. 17
  18. 18

    An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases by Salnikova, Lyubov E, Kolobkov, Dmitry S, Sviridova, Darya A, Abilev, Serikbai K

    Published in Human genetics (01-09-2021)
    “…Primary immunodeficiencies (PID) are a diverse group of genetic disorders caused by inadequate development and function of immune system. Identifying genetic…”
    Get full text
    Journal Article
  19. 19
  20. 20