GMS has been trained using all OMIM disease-associated genes as seed genes.
It represents a generic disease-likelihood score for each gene, outperforming published gene-level scores such as pLI (gnomAD), mis_z (gnomAD), RVIS (ExAC v2), cnv-score (ExAC) and LoF_FDR (ExAC).
Configuration file
Disease/Phenotype terms:
Not applicable
Additional associated terms:
Not applicable
Diseases/Phenotypes to exclude:
Inferred HPO phenotypes (automatically extracted based on seed/additional_include/exclude terms)
Not applicable.
Using all OMIM disease-associated genes for training.