Allele-specific NKX2-5 binding underlies multiple genetic associations with human EKG traits
Paola Benaglio, Agnieszka D’Antonio‐Chronowska, Wubin Ma, Feng Yang, William W. Young Greenwald, Margaret K. R. Donovan, Christopher DeBoever, He Li, Frauke Drees, Sanghamitra Singhal, Hiroko Matsui, Jessica van Setten, Nona Sotoodehnia, Kyle J. Gaulton, Erin N. Smith, , Kelly A. Frazer
The paper identifies allele-specific NKX2-5 binding variants associated with EKG traits by integrating iPSC-CM data and GWAS, showing their role in heart rate loci and cardiac enhancer activity.
Nature Genetics · Sep 30, 2019Peer-reviewedGenomics