Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, Rosemary Lemons, Sajini Jayakody, Mariam Maksutova, Jacob O. Kitzman
Topics & Concepts
Lynch syndromeMassively parallelMissense mutationMassive parallel sequencingGeneticsBiologyComputer scienceComputational biologyParallel computingMutationGeneDNA sequencingDNA mismatch repairDNA repairGenetic factors in colorectal cancerGenomics and Rare DiseasesCancer Genomics and Diagnostics