All manually annotated and validated <i>SH3YL1</i> isoforms on GENCODE v37GRCh38, and the training data used for SpliceAI and CI-SpliceAI.

<p>SH3YL1 is the first gene on the SpliceAI training data with more than one validated transcript. Ambivalent regions that can code for both exons and introns are depicted by dotted lines. On this gene, 26 (46%) of splice sites in the SpliceAI training data are not in HAVANA; 7 (18%) of our sp...

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Bibliographic Details
Main Author:	Yaron Strauch (12769860) (author)
Other Authors:	Jenny Lord (2817973) (author), Mahesan Niranjan (32677) (author), Diana Baralle (164355) (author)
Published:	2022
Subjects:	Biochemistry Genetics Molecular Biology Biotechnology Marine Biology Infectious Diseases Biological Sciences not elsewhere classified Information Systems not elsewhere classified variants disrupt splicing splice sites included splice disrupting variants novel junctions observed newly curated dataset might introduce noise meaning missed diagnoses manual annotated primary clinically relevant variants ∼ 91 %, primary isoforms combined spliceai algorithms outperformed spliceai &# 8212 machine learning input original spliceai achieving predictive accuracy increased machine learning original spliceai ∼ 92 predictive performance gene isoforms spliceai showing spliceai architecture spliceai ). xlink "> one pseudo improve prediction highlight avenues greater accuracy collapsed </ alongside mmsplice
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All manually annotated and validated <i>SH3YL1</i> isoforms on GENCODE v37GRCh38, and the training data used for SpliceAI and CI-SpliceAI.

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