◆ mantis-ml Gene Prioritisation Atlas is a repository for
disease-associated gene predictions extracted by
mantis-ml.
This atlas currently contains gene prediction results for
10 disease areas across 6 specialties:
Cardiology,
Immunology,
Nephrology,
Neurology,
Psychiatry and
Pulmonology.
It also integrates gene disease-likelihood rankings for the disease-agnostic scenario (
GMS or
Generic Mantis-ml Score).
◆ You can browse results from each disease area from the
Browse Diseases or
Select Disease drop-down menus.
Disease-associated results include:
- Gene rankings
- Interactive Visualisation of gene predictions on PCA/t-SNE/UMAP 2D plots
- Exploratory & Data Analysis Plots
- Feature importance scores by Boruta
◆ mantis-ml's predictions may also be
overlapped with ranked results from independent studies (e.g. cohort-level rare-variant association studies)
providing refined prioritisation of novel gene candidates based on the overlapping hypergeometric enrichment of top hits in both studies.
Validation with WES contains such results by overlapping mantis-ml's predictions against
WES collapsing analysis studies in
CKD,
Epilepsy and
ALS.