Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC
Science. 2018 359 (6381): 1233-1239

PMID: 29590070 · PMCID: PMC5959723 · DOI:10.1126/science.aal4043

MeSH Terms (11)

Databases, Genetic DNA Mutational Analysis Electronic Health Records Exome Genetic Association Studies Genetic Diseases, Inborn Genetic Predisposition to Disease Genetic Variation Humans Phenotype Risk Factors

Connections (1)

This publication is referenced by other Labnodes entities: