Showing 6,961 - 6,980 results of 7,564 for search 'Gnomeo~', query time: 1.59s Refine Results
  1. 6961
  2. 6962
  3. 6963
  4. 6964
  5. 6965

    Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

    Published 2025-02-01
    “…In this study, we have developed classification sequence-structure-property relationships (SSPR) models for predicting the pathogenicity of amino acid substitutions (AAS) in 25 proteins associated with the most important and genetically studied PIDs and encoded genes: IL2RG, JAK3, RAG1, RAG2, ADA, DCLRE1C, CD40LG, WAS, ATM, STAT3, KMT2D, BTK, FOXP3, AIRE, FAS, ELANE, ITGB2, CYBB, G6PD, GATA2, STAT1, IFIH1, NLRP3, MEFV, and SERPING1.MethodsThe data on 4825 pathogenic and benign AASs in the selected proteins were extracted from ClinVar and gnomAD. SSPR models were created for each protein using the MultiPASS software based on the Bayesian algorithm and different levels of MNA (Multilevel Neighborhoods of Atoms) descriptors for the representation of structural formulas of protein fragments including AAS.ResultsThe accuracy of prediction was assessed through a 5-fold cross-validation and compared to other bioinformatics tools, such as SIFT4G, Polyphen2 HDIV, FATHMM, MetaSVM, PROVEAN, ClinPred, and Alpha Missense. …”
    Get full text
    Article
  6. 6966
  7. 6967
  8. 6968
  9. 6969
  10. 6970
  11. 6971
  12. 6972
  13. 6973
  14. 6974
  15. 6975
  16. 6976
  17. 6977
  18. 6978
  19. 6979
  20. 6980