Found: 7
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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6484-5
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- Article
SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.
- Published in:
- Bioinformatics, 2020, v. 36, n. 5, p. 1634, doi. 10.1093/bioinformatics/btz784
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- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
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- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372
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- Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
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- Article
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821
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- Article
Value of the loss of heterozygosity to BRCA1 variant classification.
- Published in:
- NPJ Breast Cancer, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41523-021-00361-2
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- Article