The purpose and mission of the Mutation Analysis core Facility (MAF) is to help scientists at Karolinska Institutet, its associated hospitals, and other academic institutions to perform genetic, epigenetic and genetic-epidemiological research in order to identify and assess genetic factors involved in different disease processes.
The platforms for both genome-wide and targeted analyses include the Agena MassARRAY, the Illumina Iscan, and MiSeq.
MAF performs zygosity testing as well as sample identification genotyping as a quality control procedure for other laboratories. A major research project has involved the virological typing. In addition, MAF carries out clinical genetic testing for familial hypercholesterolemia (FH).
The MAF team consists of clinicians, biologists, IT specialists, bioinformaticians and statisticians.