- Startsida
- Units:
- MCG Unit
- ME Unit
- ACC Unit
- GTC Unit
- Core Facility:
- EGCF Facility
- EMIL Facility
- MAP Facility
- MAF Facility
- MSF Facility
- LF Facility
Mutation Analysis Facility
The purpose and mission of MAF is to help scientists at Karolinska Institutet (KI), its associated hospitals, and other institutions to perform genetic and genetic-epidemiological research on sets of families or case-control cohorts, to identify and assess genetic factors involved in different disease processes.
MAF accepts DNA samples (extracted, for instance, as a service by the KI Biobank, www.kibiobank.se) from several tens to hundreds or thousands of individuals for genotyping. Genotyping can be performed on any number of markers from a few up to hundreds, and the total number of genotypes recovered in a typical project can range anywhere from thousands to hundreds of thousands. MAF can produce approximately 100,000 genotypes per day with its current equipment and personnel. The SNPs are analyzed by MALDI-TOF analysis using the SEQUENOM platform (www.sequenom.com).
All samples received at MAF are tracked using barcodes and non-personally identifiable tracking numbers. We apply strict quality-control measures, including standard operating procedures (SOPs), LIMS tracking of data, sex determination (when info is available) to detect sample identity errors, Hardy-Weinberg equilibrium calculations, and Mendel checking where applicable. This information is provided to each customer, together with quality-controlled genotyping results and performance scores (success rate) for all tested SNPs and assays. The format of our data output is compatible with existing genetic statistical software packages.
Contact Person
Kristina Duvefelt, PhD (Lab Manager)
Tel: +46 8 58583693
kristina.duvefelt@biosci.ki.se