Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Biology

Volumn 18, Issue 1, 2017, Pages

  Ghosh, Rajarshi ^a   Oak, Ninad ^a   Plon, Sharon E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

ACMG; Clinical genetics; ClinVar; Diagnostics; In silico algorithm; ROC; Variant interpretation

Indexed keywords

ARTICLE; CLASSIFICATION ALGORITHM; CLINICAL LABORATORY; COMPUTER ANALYSIS; COMPUTER ASSISTED DIAGNOSIS; COMPUTER PREDICTION; CONTROLLED STUDY; EVALUATION STUDY; GENETIC ALGORITHM; GENETIC VARIABILITY; GENETICS; INHERITANCE; LABORATORY DIAGNOSIS; MISSENSE MUTATION; MOLECULAR PATHOLOGY; PERFORMANCE; PRACTICE GUIDELINE; SOFTWARE; STANDARDIZATION; ALGORITHM; BIOLOGY; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETIC VARIATION; HUMAN; HUMAN GENOME; PROCEDURES; REPRODUCIBILITY;

ALGORITHMS; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOME, HUMAN; GUIDELINES AS TOPIC; HUMANS; REPRODUCIBILITY OF RESULTS; SOFTWARE;

EID: 85035137187     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-017-1353-5     Document Type: Article

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