Wenche Sjursen and colleagues present a study to investigate all putative pathogenic mismatch repair mutations tested for at the Division of Molecular Medicine, Pathology North, in Newcastle, Australia in Lynch syndrome and, to establish whether previous variant classification is in accordance with that recently performed in the InSiGHT collaboration.
Sjursen, Wenche et al. Molecular Genetics & Genomic Medicine.
"Alamut enables us to interrogate and manage our data with ease. It has an intuitive interface, which brings together a range of routinely used resources, saving a significant amount of time & ensuring a consistent approach to variant interrogation."
KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals