Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Leong, Ivone U S ^a   Stuckey, Alexander ^b   Lai, Daniel ^c   Skinner, Jonathan R ^b,c,d   Love, Donald R ^b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

Genetics; In silico prediction tools; Ion channels; Long QT syndrome

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; ERG1 POTASSIUM CHANNEL; POTASSIUM CHANNEL HERG; SCN5A PROTEIN, HUMAN;

ARTICLE; BRUGADA SYNDROME; COMPUTER MODEL; COMPUTER PROGRAM; CONTROLLED STUDY; DATA BASE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ANALYZER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INTERMETHOD COMPARISON; LONG QT SYNDROME; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PATHOGENICITY; PREDICTION; PREDICTIVE VALUE; PROTEIN SECONDARY STRUCTURE; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; BIOLOGY; COMPUTER SIMULATION; GENETICS; MUTATION; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

COMPUTATIONAL BIOLOGY; COMPUTER SIMULATION; ETHER-A-GO-GO POTASSIUM CHANNELS; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84929461414     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0176-z     Document Type: Article

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