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Swedish Genomes Program


Recent technological advancements have made human whole genome sequencing possible in large scale. The Swedish Genomes program is part of the SciLifeLab National Projects, and supports Swedish researchers to perform human whole genome sequencing to identify the genetic causes of disease with high health relevance. The projects can include studies of familiar cases of disease as well as case-control studies and can span from 50 – 3000 samples per project. The projects are handled by the National Genomics Infrastructure and sequenced on the Illumina Hiseq X sequencing platform. This platform is only available at the largest centers world-wide and is the current leading platform to enable high throughput and cost-efficient genome sequencing.

There are currently 14 projects ongoing within the Swedish Genomes program. The projects have been evaluated by an external panel of experts and then selected by the national board of SciLifeLab.


Establishment of a reference database of genetic variation in the Swedish population

As part of the Swedish Genomes program, a reference tool is being constructed for use by the genetics research community and clinical genetics laboratories. This high quality genetic variant database for the Swedish population is being established from the genomes of 1000 individuals selected to reflect the genetic structure and geographical distribution of the Swedish population. To make the variant frequencies and the individual variants available to the community a secure database is now under construction.

  • PI: Ulf Gyllensten, UU, Generation of a high quality genetic variant database for the Swedish population


Projects awarded 2014

  • PI: Jan Dumanski, UU, The Swedish Successfully Aging Genomes Project (SSAGP): a study of multiple tissues and serially sampled humans living longer than 93 years
  • PI: Caroline Graff, KI,  Identification of genetic variations in Alzheimer disease and frontotemporal dementia by whole-genome sequencing
  • PI: Anna Lindstrand, KI, Whole genome sequencing of disease associated copy number changes to identify novel neurodevelopmental genes
  • PI: Jeffrey Mold, KI, A comprehensive examination of genetic variation due to acquired somatic mutations during an individual lifetime
  • PI: Richard Rosenquist Brandell, UU, Exploring the complex molecular landscape in chronic lymphocytic leukemia
  • PI: Ann-Christine Syvänen, UU, Clonal evolution from diagnosis to relapse in childhood acute lymphoblastic leukemia cells
  • PI: Anna Wedell, KI, Whole genome sequencing in inborn errors of metabolism


Projects awarded 2015

  • PI: Tommy Martinsson, GU, Whole genome sequencing of a national neuroblastoma tumor cohort diagnosed during 1982-2015, included in the population-based Swedish Childhood Cancer Registry; Molecular and genetic mechanisms
  • PI: Patrick Sullivan, KI, Finding causal variants within schizophrenia risk loci
  • PI: Jonas Nilsson, GU, A Two-Front Attack on Metastatic Uveal Melanoma – Clinical Trials and Translational Research
  • PI: Mårten Fernö, LU, Breast cancer local recurrence evolution and the effect of radio therapy on the breast cancer genome
  • PI: Åsa Johansson, UU, Whole-genome sequencing in a well characterized high kinship cohort to identify the rare variant landscape of complex traits
  • PI: Anna Lindstrand, KI, Next generation molecular genetic studies of genomic structural rearrangements


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