Karen Eilbeck, MSc, PhD et al. in Nature Reviews Genetics
Aug 14, 2017 5:15 PM
Karen Eilbeck in collaboration with Aaron Quinlan and Mark Yandell of the UCGD and the Department of Human Genetics have authored a review article titled “Settling the score: variant prioritization and Mendelian disease” for Nature Reviews Genetics. This manuscript details the challenges of variant prioritization through clinical interpretation and delivery.