Phenotype risk scores identify patients with unrecognized mendelian disease patterns

Science

Volumn 359, Issue 6381, 2018, Pages 1233-1239

  Bastarache, Lisa ^a   Hughey, Jacob J ^a   Hebbring, Scott ^b   Marlo, Joy ^a   Zhao, Wanke ^c   Ho, Wanting T ^c   Van Driest, Sara L ^a   McGregor, Tracy L ^a   Mosley, Jonathan D ^a   Wells, Quinn S ^a,d   Temple, Michael ^a   Ramirez, Andrea H ^a   Carroll, Robert ^a   Osterman, Travis ^a   Edwards, Todd ^a   Ruderfer, Douglas ^a   Velez Edwards, Digna R ^a   Hamid, Rizwan ^a   Cogan, Joy ^a   Glazer, Andrew ^a   Wei, Wei Qi ^a   Feng, QiPing ^d   Brilliant, Murray ^b   Zhao, Zhizhuang J ^c   Cox, Nancy J ^a   Roden, Dan M ^a,d   Denny, Joshua C ^a   more..

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b MARSHFIELD CLINIC   (United States)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HEMOCHROMATOSIS PROTEIN; NICOTINIC RECEPTOR ALPHA4; PANTOTHENATE KINASE 2; TRIACYLGLYCEROL; VON WILLEBRAND FACTOR;

DISEASE PREVALENCE; GENETIC ANALYSIS; GENOTYPE; MODEL VALIDATION; PHENOTYPE; RISK ASSESSMENT; SKIN DISORDER;

AGXT GENE; ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CFTR GENE; CHRNA4 GENE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; DGKE GENE; F10 GENE; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL ERYTHROCYTOSIS; FAN1 GENE; GENE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HARP SYNDROME; HEMOCHROMATOSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HFE GENE; HUMAN; INTERMETHOD COMPARISON; INTERSTITIAL NEPHRITIS; KIF1A GENE; KIF1B GENE; MAJOR CLINICAL STUDY; MENDELIAN DISEASE; NEPHROTIC SYNDROME; NOCTURNAL FRONTAL LOBE EPILEPSY; OXALOSIS 1; PANK2 GENE; PHENOTYPE; PHENOTYPE RISK SCORE; PLCG2 GENE; PRIORITY JOURNAL; SH2B3 GENE; SPASTIC PARAPLEGIA; SPINOCEREBELLAR ATAXIA; SPTBN2 GENE; SULFOCYSTEINURIA; SUOX GENE; TG GENE; THROMBOCYTHEMIA; THYROID DYSHORMONOGENESIS; VON WILLEBRAND DISEASE; VWF GENE; DNA MUTATIONAL ANALYSIS; ELECTRONIC HEALTH RECORD; EXOME; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; RISK FACTOR;

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;

EID: 85044062518     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aal4043     Document Type: Article

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