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Adjust PM2 weighting to Supporting in line with SVI v1.0 #502

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julesjacobsen opened this issue Jul 14, 2023 · 0 comments
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Adjust PM2 weighting to Supporting in line with SVI v1.0 #502

julesjacobsen opened this issue Jul 14, 2023 · 0 comments
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14.0.0

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https://clinicalgenome.org/site/assets/files/5182/pm2_-_svi_recommendation_-_approved_sept2020.pdf
@julesjacobsen julesjacobsen self-assigned this Jul 14, 2023
@julesjacobsen julesjacobsen added this to the 14.0.0 milestone Jul 14, 2023
@julesjacobsen julesjacobsen mentioned this issue Sep 6, 2023
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julesjacobsen added a commit that referenced this issue Sep 6, 2023
@julesjacobsen
Change for issue #502 - downgrade PM2 - PM2_Supporting for variants l…
1625dc0 
…acking frequency information.

Update Acgs2020Classifier and Acmg2015Classifier to allow for PVS1 and PM2_Supporting are sufficient to trigger LIKELY_PATHOGENIC
Change for issue #514 update AcmgEvidence to fit a Bayesian points-based system
Add new Acmg2020PointsBasedClassifier to classify AcmgEvidence based on points
julesjacobsen added a commit that referenced this issue Sep 15, 2023
@julesjacobsen
Change for issue #502 - downgrade PM2 - PM2_Supporting for variants l…
2cda8f5 
…acking frequency information.

Update Acgs2020Classifier and Acmg2015Classifier to allow for PVS1 and PM2_Supporting are sufficient to trigger LIKELY_PATHOGENIC
Change for issue #514 update AcmgEvidence to fit a Bayesian points-based system
Add new Acmg2020PointsBasedClassifier to classify AcmgEvidence based on points
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