A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes
Chenjie Zeng, Lisa A. Bastarache, Ran Tao, Eric Venner, Scott Joseph Hebbring, Justin D. Andujar, Harris T. Bland, David R. Crosslin, Siddharth Pratap, Ayorinde Cooley, Jennifer A. Pacheco, Kurt Derek Christensen, Emma F. Perez, Carrie L. Blout Zawatsky, Leora Witkowski, , Joshua C. Denny
This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.
JAMA Oncology · Apr 21, 2022Peer-reviewedGenetic & Genomic Medicine