Table 3.

ML applications in precision medicine

Software	Function	ML approach	Website
AlphaMissense	Functional inference	Deep learning	https://alphamissense.hegelab.org/
DeepVariant	Variant detection	CNN	https://github.com/google/deepvariant
M-CAP	Variant prioritisation	Supervised ML	http://bejerano.stanford.edu/MCAP/
MLVar	Variant prioritisation	Method/Pipeline using ML	https://github.com/GiovannaNicora/MLVar
REVEL	Functional inference	Random Forest (RF)	https://sites.google.com/site/revelgenomics/
BayesDel/ PEARCH	Functional inference	Likelihood Based approach	https://fenglab.chpc.utah.edu/BayesDel.html
ClinPred	Functional inference	Random forest and Gradient boosting models	https://sites.google.com/site/clinpred/
MAVERICK	Functional inference	Neural network-based	https://github.com/ZuchnerLab/Maverick
EvAgg	Clinical curation	LLM model	https://github.com/microsoft/healthfutures-evagg