Leveraging Health Systems Data to Characterize a Large Effect Variant Conferring Risk for Liver Disease in Puerto Ricans
Gillian M. Belbin, Stephanie M. Rutledge, Tetyana Dodatko, Sinéad Cullina, Michael C. Turchin, Sumita Kohli, Denis Torre, Muh‐Ching Yee, Christopher R. Gignoux, Noura S. Abul‐Husn, Sander M. Houten, Eimear E. Kenny
The paper identifies a risk variant for liver disease in Puerto Ricans by integrating EHR and genomic data, showing a dose-dependent association with disease severity.
The American Journal of Human Genetics · Oct 21, 2021Peer-reviewedGenetic & Genomic Medicine