Isoform Analysis

The isoform analysis group aims to enable and inspire widespread analysis of isoforms. To do this, we develop bioinformatic databases and tools (enable) and perform analysis highlighting the importance of considering isoforms (inspire).

Jointly alternative splicing, alternative transcription starts, and alternative termination sites expand the functional output of the genome by enabling the production of different isoforms from the same gene (illustrated below). While the vast majority of human genes can produce different isoforms, this seems to have been forgotten in the era of modern biology, where the vast majority of analysis is only done at the gene level.

We aim to enable researchers worldwide to harvest this treasure trove of unused potential.

To ensure widespread uptake of isoform analysis, we work closely with other bioinformaticians, experimentalists, clinicians, and biotech companies. While isoforms are relevant in all multi-cellular organisms, our current research focuses exclusively on human health and disease.

In the larger perspective, our research contributes to a new research paradigm where scientists perform all their analysis at the isoform level instead of focusing solely on genes. Thus, our research could help discover otherwise overlooked biology, potentially contributing to all areas of the life and health sciences.

Group defining papers

• Dam et al. Expression and Splicing Mediate Distinct Biological Signals
  doi.org/10.1101/2022.08.29.505720
• Vitting-Seerup et al. IsoformSwitchAnalyzeR: analysis of changes in genome-wide patterns of alternative splicing and its functional consequences
  doi.org/10.1093/bioinformatics/btz247 
• Vitting-Seerup et al. The Landscape of Isoform Switches in Human Cancers
  doi.org/10.1158/1541-7786.mcr-16-0459