Phenotype Risk Scores (PheRS)

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Lisa Bastarache, Jacob J. Hughey, Scott Hebbring, Joy Marlo, Wanke Zhao, Wanting T. Ho, Sara L. Van Driest, Tracy L. McGregor, Jonathan D. Mosley, Quinn S. Wells, Michael Temple, Andrea H. Ramirez, Robert Carroll, Travis Osterman, Todd Edwards, Douglas Ruderfer, Digna R. Velez Edwards, Rizwan Hamid, Joy Cogan, Andrew Glazer, Wei-Qi Wei, QiPing Feng, Murray Brilliant, Zhizhuang J. Zhao, Nancy J. Cox, Dan M. Roden and Joshua C. Denny.  Science 359 (6381), 1233-1239. DOI: 10.1126/science.aal4043

Abstract & Reprint (Free Access)