blog

Peter Rogan is Professor of Biochemistry at the University of Western Ontario in London, Canada, where he studies the consequences of single nucleotide variation at protein binding sites in the genome or transcriptome.

In this video, Rogan and his colleagues introduce their new review on ‘Interpretation of mRNA splicing mutations in genetic disease’ recently published in the F1000Research Rare diseases channel, and explain the importance of interpreting genomic variants in rare and common diseases.

“The experience of publishing with F1000 Research has been rewarding in several ways. First, the freedom to present our work without some of the typical constraints imposed by some traditional academic journals means that we can concentrate on content rather than form. Second, the flexibility to publish underlying data, software, and update versions of the paper makes the publication process less stressful. Finally, the open feedback and dialog between authors, reviewers and commenters gives publication in F1000Research an imprimateur of fairness that can be missing in journals where the process is completely opaque to the reader. ” Peter Rogan

A longer version of the video can be accessed here.