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mobidic
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MPA
MoBiDiC Priorization Algorithm
MIT License
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Optimize ranking
#4
Closed
Char-Al
closed
5 years ago
Char-Al
commented
6 years ago
Ranking : from 1 to 10 and score
[x] 1. clinvar_pathogenicity : Pathogenic variants reported on ClinVar (score : 10)
[x] 2. stop or frameshift_impact : Premature Truncation Codon : nonsense or frameshift (score : 10)
[x] 3. splicing_impact (ADA, RF) : Affecting splice variants predictions ranked by algorithm performance robustness and strength (score : 10)
[x] 4. splicing_impact (spliceAI high) : Affecting splice variants predictions ranked by algorithm performance robustness and strength (score : 10)
[x] 5. missense impact moderate to high impact (6-10)
[x] 6. moderate splicing_impact (spliceAI moderate) (score 6)
[x] 7. missense_impact moderate : Missense variants scores low impact (score : 2-6)
[x] 8. low splicing impact (spliceAI low) (indel) (score : 2)
[x] 9. missense_impact low : Missense variants scores low impact (score : 0-2)
[x] 10. unknown impact : Exonic variants with not clearly annotated ORFs and splicing variants not predicted pathogenic ; or NULL (no annotation on genes, splice etc...) (score : 0-10)
Ranking : from 1 to 10 and score