Merel Stemerdink

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.

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.

SUsPECT improves variant annotation by using custom long-read transcriptomes to better predict variant effects in clinical settings.