The Framework of a Variant Effect Map (MAVE) or Deep Mutational Scanning (DMS)
Description
This template was adapted from the original submission. Edits were made to enhance scientific accuracy, optimal usability and/or to meet industry-leading design standards for science communication.
The MAVE framework
1. The generation of a mutagenized library by random mutagenesis
2. Integration of variant into a cell model for testing
3. Expansion and selection
4. Amplification of post-assay variant segments using TileSeq
5. Analysis of variant fitness according to codon position
6. Imputation and refinement of pathogenicity scores to assess clinical utility.
Acknowledgements
References
Weile, J.. (2017) A framework for exhaustively mapping functional missense variants.. Molecular System Biology. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740498/pdf/MSB-13-957.pdf
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