• HyperHMM: efficient inference of evolutionary and progressive dynamics on hypercubic transition graphs 

      Moen, Marcus Theodor; Johnston, Iain George (Journal article; Peer reviewed, 2023)
      Motivation: The evolution of bacterial drug resistance and other features in biology, the progression of cancer and other diseases and a wide range of broader questions can often be viewed as the sequential stochastic ...
    • Model-based clustering of multi-tissue gene expression data 

      Erola, Pau; Björkegren, Johan L.M.; Michoel, Tom Luk Robert (Journal article; Peer reviewed, 2020)
      Motivation Recently, it has become feasible to generate large-scale, multi-tissue gene expression data, where expression profiles are obtained from multiple tissues or organs sampled from dozens to hundreds of individuals. ...
    • ramr: an R/Bioconductor package for detection of rare aberrantly methylated regions 

      Nikolaienko, Oleksii; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2022)
      Motivation: With recent advances in the field of epigenetics, the focus is widening from large and frequent disease- or phenotype-related methylation signatures to rare alterations transmitted mitotically or transgenerationally ...
    • Reconstructing ribosomal genes from large scale total RNA meta-transcriptomic data 

      Xue, Yaxin; Lanzén, Anders; Jonassen, Inge (Journal article; Peer reviewed, 2020-03-13)
      Motivation Technological advances in meta-transcriptomics have enabled a deeper understanding of the structure and function of microbial communities. ‘Total RNA’ meta-transcriptomics, sequencing of total reverse transcribed ...
    • 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 ...