Article

Aberrant splicing prediction across human tissues

2022-06-15

Abstract excerpt

Aberrant splicing is a major cause of genetic disorders but its direct detection in transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While DNA-based machine learning models allow prioritizing rare variants for affecting splicing, their performance on predicting tissue-specific aberrant splicing remains unassessed. Here, we generated the first aberrant splicing benchmark datas...

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Identifiers and source

Literature Corpus work: 92b08634-fa25-5f84-bdaf-5b6cefed17c2
DOI: 10.1101/2022.06.13.495326

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