I use bioinformatics tools to answer medical research questions. My motivation lies in elucidating the molecular mechanisms underlying human health, with a particular focus on the interplay of transcription initiation and alternative splicing in gene regulation. I apply cutting-edge techniques to analyse genomic datasets such as single-cell RNA-seq and CutNRun. My current focus is on integrating whole-genome sequencing and single-cell RNA-seq for the diagnosis of rare immune disorders, also known as errors of inborn immunity.