Top Tweets for #SpliceAI
@BaoSuying DeltaSplice uses residual net architecture like #SpliceAI (but bigger, x12 fold) and has a "dual-sequence mode" to improve the prediction of splicing-altering mutations. We benchmarked with SpliceAI, pangolin, and MMSplice on various tasks, including de novo mutations in #autism.
We want to congratulate David Baux and all the participants in the amazing SpliceAI-visual project!
Read this paper to know more about this online tool to improve #SpliceAI splicing variant interpretation
👉 https://t.co/Rmp6uRbWUB
@MoBiDiC_BioInfo @umontpellier @InsermOccMed

Very nice work by @ZeliaCorradi on the identification using #spliceai and splice assays of deep-intronic #ABCA4 variants in mono-allelic #STGD1 #retina22 @fight_blindness @ITN_StarT


CADD and #SpliceAI scores are displayed on the pathogenicity evidence tab when adding computational and predictive data evidence criteria.
#UsingEnsembl #VEP

#SpliceAI scores are now displayed in the patient genotype table and on the Consequence prediction (VEP) annotation tab, for variants predicted to affect splicing
#UsingEnsembl #VEP

Si ça interesse, j'ai fait un notebook rapide pour calculer les probabilités de splicing effect le long d'un gène avec #SpliceAI et les visualiser sur IGV. A calculer chez vous avec un GPU car ça prend bcp de temps !
https://t.co/dP7CLnGHMZ

In exactly 27 days #JennyLord @unisouthampton will #Keynote Part A of our #BPIT2020 #Splicing session. She’ll describe how #SpliceAI is able to transform #wholegenomesequencing 🧬into useful near #splicesite analysis and how they can contribute to #raredisease #scienceinparadise

#SpliceAI: pour prédire l'effet des mutations sur les sites d'epissage en utilisant du deep learning
https://t.co/UcmLDyJTC5
#SpliceAI is a deep neural #network that predicts #splicing from pre-mRNA sequence leading to precise prediction of noncoding #genetic variants that cause cryptic splicing
#UsingEnsembl #vep #biomart
@illumina @CellCellPress
https://t.co/OEiGDRtVDc

How we #SpliceAI on DNAnexus. @UK_Biobank GWAS + #JupyterLab. @infoecho#DeepLearning & #Genomics

An example using @illumina SpliceAI published today in @CellCellPress. https://t.co/3ZaKyTAceW We apply SpliceAI on @uk_biobank GWAS variants. Bringing #DeepLearning for #Genomics to the DNAnexus Platform using JupyterLab & #SpliceAI

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