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.

The paper uses long-read sequencing to profile immune cells stimulated by pathogens, identifying novel transcripts and isoforms that reveal new insights into immune response mechanisms.

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