Article

Aberrant splicing prediction during human organ development

2025-07-20

Abstract excerpt

Developmental disorders constitute a major class of genetic diseases, yet tools to identify splicing-disruptive variants during development are lacking. To address this need we extended the AbSplice framework to incorporate splicing dynamics across developmental stages. Moreover, we introduced several improvements including a refined ground truth from the aberrant splicing caller FRASER2, a continuous representati...

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Literature Corpus work: a99f2ac4-f7f2-5cb3-9b0c-8e91f85fa576
DOI: 10.1101/2025.07.16.665183

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