Academic_science

What's NEW?
New Missense Predictor: AlphaMissense
AlphaMissense is a machine-learning system that can categorize a missense genetic variant as likely to be pathogenic or benign. To classify missense variants, Google DeepMind has built a new tool called AlphaMissense, which is based on AlphaFold2, but implemented it as a separate system.
AlphaMissense score and prediction are available in the “Missense Predictions” section of the Variant Panel and in the Variant Report.
New Splicing Predictor: SPiP (Splicing Pipeline Prediction)
SPiP is a randomForest model running a cascade of bioinformatics tools.
SPiP uses SPiCE tool for the consensus splice sites (donor and acceptor sites), MES for polypyrimidine tract between -13 and -20, BPP for branch point area between -18 and -44, a homemade score to research cryptic/de novo activation and ΔtESRseq for exonic splicing regulatory element until to 120 nt in exon.
SPiP full detailed output is available in the Splicing Report under the “Splicing View”, while variant’s overall splicing prediction and impact risk are provided in the Variant Report.


🔮 با #آکادمیک #ساینس همراه باشید🍂
💯اطلاعات بیشتر در ⬅️ 👈

🌐 @academic_science

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www.tgoop.com/academic_science/13958

4.29K viewsedited  Apr 29 at 15:51

What's NEW?
New Missense Predictor: AlphaMissense
AlphaMissense is a machine-learning system that can categorize a missense genetic variant as likely to be pathogenic or benign. To classify missense variants, Google DeepMind has built a new tool called AlphaMissense, which is based on AlphaFold2, but implemented it as a separate system.
AlphaMissense score and prediction are available in the “Missense Predictions” section of the Variant Panel and in the Variant Report.
New Splicing Predictor: SPiP (Splicing Pipeline Prediction)
SPiP is a randomForest model running a cascade of bioinformatics tools.
SPiP uses SPiCE tool for the consensus splice sites (donor and acceptor sites), MES for polypyrimidine tract between -13 and -20, BPP for branch point area between -18 and -44, a homemade score to research cryptic/de novo activation and ΔtESRseq for exonic splicing regulatory element until to 120 nt in exon.
SPiP full detailed output is available in the Splicing Report under the “Splicing View”, while variant’s overall splicing prediction and impact risk are provided in the Variant Report.


🔮 با #آکادمیک #ساینس همراه باشید🍂
💯اطلاعات بیشتر در ⬅️ 👈

🌐 @academic_science

BY Academic_science