Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.

Bastarache L, Hughey JJ, Goldstein JA, Bastraache JA, Das S, Zaki NC, Zeng C, Tang LA, Roden DM, Denny JC
J Am Med Inform Assoc. 2019 26 (12): 1437-1447

PMID: 31609419 · PMCID: PMC6857501 · DOI:10.1093/jamia/ocz179

MeSH Terms (10)

Adult Child Cystic Fibrosis Data Mining Electronic Health Records Genetic Diseases, Inborn Humans International Classification of Diseases Phenotype Risk Factors

Connections (1)

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