Tabea Riepe

Deep learning-based prediction of tissue-specific splice sites in the human neural retina

The paper develops a retina-specific splice prediction tool based on SpliceAI to improve identification of splice sites in the human neural retina, but it does not significantly enhance predictions for tissue-specific variants or identify novel pathogenic variants.

A proteogenomic atlas of the human neural retina

The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.