A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

SUMMARY: Assessing the pathogenicity of genetic variants can be a complex and challenging task. Spliceogenic variants, which alter mRNA splicing, may yield mature transcripts that encode non-functional protein products, an important predictor of Mendelian disease risk. However, most variant annotati...

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Veröffentlicht in:Bioinformatics
Hauptverfasser: Shamsani, Jannah, Kazakoff, Stephen H, Armean, Irina M, McLaren, Will, Parsons, Michael T, Thompson, Bryony A, O’Mara, Tracy A, Hunt, Sarah E, Waddell, Nicola, Spurdle, Amanda B
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6596880/
https://ncbi.nlm.nih.gov/pubmed/30475984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty960
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