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.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague