PON-MMR2 |
PON-MMR2 classifies amino acid substitutions in mismatch repair (MMR) proteins: MLH1, MSH2, MSH6 and PMS2.
It is a machine learning-based method and utilizes amino acid features and evolutionary information.
It is trained and tested on variants obtained from
InSiGHT database that are classified into benign (Classes 1 and 2) and harmful (Classes 4 and 5) (Thompson et al.)
as well as variants obtained from VariBench database that were used to train PON-MMR (Ali et al.).
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