Widespread naturally variable human exons aid genetic interpretation
Hannah N. Jacobs, Bram L. Gorissen, Jérémy Guez, Masahiro Kanai, Kavi Gupta, Hilary K. Finucane, Konrad J. Karczewski, Christopher B. Burge
The paper identifies naturally variable exons in human transcripts, showing their prevalence and impact on gene expression and genetic interpretation.
Nature Communications · Dec 16, 2025Peer-reviewedGenetics