Research projects

  • Segregation analysis for evaluating variant pathogenicity. Part of the NRC-funded project Automation of clinical genetic variant interpretation
  • The ped suite: A collection of R packages for pedigree analysis
  • QuickPed: An online tool for interactive pedigree creation and analysis of relatedness
  • Filtus: a desktop GUI for fast and efficient detection of disease-causing variants
  • Analysis of exomes and genomes from related patients (various inhouse collaborators)
  • The missing grandchildren in Argentina (with M. Herrera Piñero & colleagues at BNDG, Argentina)
  • Disaster-victim identification (with T. Egeland, NMBU)
  • Theoretical pedigree analysis
 
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