Browsing Department of Informatics by Author "Johansson, Stefan"

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    • 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 ...

    • SeeCiTe: a method to assess CNV calls from SNP arrays using trio data 

      Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus; Jonassen, Inge; Johansson, Stefan (Journal article; Peer reviewed, 2021)
      Motivation Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive platform for assaying copy number variants (CNVs) in large population-wide cohorts. However, current tools for calling CNVs are still ...