Challenges
The advent of High Through-put sequencing has revolutionized both practice and research within the field of Medical Genetics. In order to exploit the power that lies within the huge datasets generated by this technology, one needs the computational and bioinformatics skills to generate, store and analyse these data. The projects in which we participate (either as lead or as a collaborative partner) usually involve a large component of bioinformatics analysis of HTS data.

Projects

• Sequencing of repetitive regions using single molecule sequencing technologies.
• GenAP (with Dag Undlien): development of a national hardware and software infrastructure for the storage, analysis and communication of patient genomic data, with the goal of facilitating personalised medicine in Norway.
• Causes of mendelian disorders in particular in progressive encephalopathies (with Eirik Frengen).
• ChIPseq scale-down to low cell numbers (with Gregor Gilfillan).
• Addisons disease (with Dag Undlien)
• Role of ANK3 in the etiology of bipolar disorder (with Srdjan Djurovic)

Contact information:
Group leader Tim Hughes, Department of Medical Genetics Oslo University Hospital (Ullevål) Tel: +47 99161818 E-mail: tim.hughes@medisin.uio.no