Blar i Bergen Open Research Archive på forfatter "Skiadopoulou, Dafni"

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    • Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes 

      Kuznetsova, Ksenia; Vasicek, Jakub; Skiadopoulou, Dafni; Molnes, Janne; Udler, Miriam; Johansson, Stefan; Njølstad, Pål Rasmus; Manning, Alisa; Vaudel, Marc (Journal article; Peer reviewed, 2024)
      Monogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, ...

    • Finding haplotypic signatures in proteins 

      Vasicek, Jakub; Skiadopoulou, Dafni; Kuznetsova, Ksenia; Wen, Bo; Johansson, Stefan; Njølstad, Pål Rasmus; Bruckner, Stefan; Käll, Lukas; Vaudel, Marc (Journal article; Peer reviewed, 2023)
      Background The nonrandom distribution of alleles of common genomic variants produces haplotypes, which are fundamental in medical and population genetic studies. Consequently, protein-coding genes with different ...

    • Retention Time and Fragmentation Predictors Increase Confidence in Identification of Common Variant Peptides 

      Skiadopoulou, Dafni; Vasicek, Jakub; Kuznetsova, Ksenia; Bouyssié, David; Käll, Lukas; Vaudel, Marc (Journal article; Peer reviewed, 2023)
      Precision medicine focuses on adapting care to the individual profile of patients, for example, accounting for their unique genetic makeup. Being able to account for the effect of genetic variation on the proteome holds ...