Article
An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency.
The Journal of molecular diagnostics : JMD - 1 Feb 2021
Oldfield Leslie E, Li Tiantian, Tone Alicia, Aronson Melyssa, Edwards Melissa, Holter Spring, Quevedo Rene, Van de Laar Emily, Lerner-Ellis Jordan, Pollett Aaron, Clarke Blaise, Tabori Uri, Gallinger Steven, Ferguson Sarah E, Pugh Trevor J
Abstract excerpt
Clinical testing for mismatch repair (MMR) deficiency often entails serial testing of tumor and constitutional DNA using multiple assays. To minimize cost and specimen requirements of MMR testing, we developed an integrated targeted sequencing protocol (termed MultiMMR) that tests for promoter methylation, mutations, copy number alterations, copy neutral loss of heterozygosity, and microsatellite instability from...
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