The functional impact of rare variation across the regulatory cascade
Taibo Li, Nicole M. Ferraro, Benjamin J. Strober, François Aguet, Silva Kasela, Marios Arvanitis, Bohan Ni, Laurens Wiel, Elliot A. Hershberg, Kristin Ardlie, Dan E. Arking, Rebecca L. Beer, Jennifer A. Brody, Thomas W. Blackwell, Clary B. Clish, , Stephen B. Montgomery
The paper identifies impactful rare variants by integrating multi-omic data from MESA, showing that combining expression and protein data increases the detection of rare stop and frameshift variants.
Cell Genomics · Sep 6, 2023Peer-reviewedGenomics