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Paper Details

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Science
114
2018
Mendelian, Mendelian diseases, PheRS, patients, rare, rare variants
Author NameAffiliation
Lisa BastaracheVanderbilt University Medical Center
Lisa BastaracheVanderbilt University Medical Center
Scott J HebbringCenter for Human Genetics, Marshfield Clinic Research Institute
Sara L Van DriestVanderbilt University Medical Center
Sara L Van DriestVanderbilt University Medical Center
Tracy L McGregorVanderbilt University Medical Center
Jonathan D MosleyVanderbilt University Medical Center
Quinn S WellsVanderbilt University Medical Center
Quinn S WellsVanderbilt University Medical Center
Michael W TempleVanderbilt University Medical Center
Andrea H RamirezVanderbilt University Medical Center
Robert J CarrollVanderbilt University Medical Center
Travis OstermanVanderbilt University Medical Center
Travis OstermanVanderbilt University Medical Center
Todd L EdwardsVanderbilt University Medical Center
Douglas M RuderferVanderbilt University Medical Center
Douglas M RuderferVanderbilt University Medical Center
Digna R Velez EdwardsVanderbilt University Medical Center
Rizwan HamidVanderbilt University Medical Center
Rizwan HamidVanderbilt University Medical Center
Andrew M GlazerVanderbilt University Medical Center
Wei-Qi WeiVanderbilt University Medical Center
QiPing FengVanderbilt University Medical Center
Murray H BrilliantCenter for Human Genetics, Marshfield Clinic Research Institute
Nancy J CoxVanderbilt University Medical Center
Nancy J CoxVanderbilt University Medical Center
Dan M RodenVanderbilt University Medical Center
Dan M RodenVanderbilt University Medical Center
Dan M RodenVanderbilt University Medical Center
Joshua C DennyVanderbilt University Medical Center
Joshua C DennyVanderbilt University Medical Center
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Datasets

Release 1.2