Title: Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease
Patrick F. Sullivan, Jennifer R. S. Meadows, Steven Gazal, BaDoi N. Phan, Xue Li, Diane P. Genereux, Michael X. Dong, Matteo Bianchi, Gregory Andrews, Sharadha Sakthikumar, Jessika Nordin, Ananya Roy, Matthew J. Christmas, Voichita D. Marinescu, Chao Wang, , Arcadi Navarro
The paper uses evolutionary constraint scores to identify functional genomic regions and finds they are enriched for variants associated with common diseases.
Science · Apr 27, 2023Peer-reviewedGenomics