For everything you have missed, you have gained something else: Impact of novel splicing events in human and mouse


Nearly all human genes undergo alternative splicing, the process through which different transcripts are generated from a single gene. Very little is known about the function of alternatively spliced transcripts. We know it’s a universal phenomenon in eukaryotes, regulation of splicing is tissue and developmental stage-specific, and it plays an important part in fundamental biological processes. The most recent studies, by us and others, point at a vast underestimation in transcript diversity. As a result, we’ve already identified thousands of novel transcripts and exons in both human and mouse studies.

We offer a highly collaborative PhD project between the Haerty Group (bioinformatics) and Macaulay Group (molecular biology, technology development) to investigate the evolution, function, and expression across development stage and cell type of these novel alternative splicing events. There will be a specific focus on those with lineage-specific (primates, rodents) or species-specific (human, mouse) evolution.

You will work in a rapidly-developing field and gain unique expertise in computational biology, large datasets analysis, long-read sequencing technologies, molecular biology, technology development, low input and single cells approaches. The project will be conducted at the Earlham Institute, a world leading research centre for bioinformatics and sequencing technology development. You will have access to training and career development opportunities at EI and on the Norwich Research Park as part of the Norwich Biosciences Doctoral Training Partnership.

Macaulay IC, et al. 2015. G&T-seq: parallel sequencing of single-cell genomes and transcriptomes. Nat. Methods. 12:519-522.

Clark M., et al. 2020. Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain. Mol Psychiatry 25:37-47.

Mincarelli L., et al. 2020. Combined single-cell gene and isoform expression analysis in haematopoietic stem and progenitor cells. biorXiv