Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

Genetics in Medicine

Volumn 18, Issue 11, 2016, Pages 1102-1110

  Ales, Maver ^a   Luca, Lovrecic ^a   Marija, Volk ^a   Gorazd, Rudolf ^a   Karin, Writzl ^a   Ana, Blatnik ^a   Alenka, Hodzic ^a   Peterlin, Borut ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

clinical genetics; exome sequencing; genome sequencing; phenotype ontology

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; DIAGNOSTIC VALUE; EPILEPSY; EXOME; GENE TARGETING; GENETIC ASSOCIATION; GENETIC DISORDER; GENOME-WIDE ASSOCIATION STUDY; HEARING IMPAIRMENT; HUMAN; INCIDENTAL FINDING; KIDNEY DISEASE; MUSCLE DISEASE; NEUROLOGIC DISEASE; NEUROMUSCULAR DISEASE; PARKINSON DISEASE; PHENOTYPE; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDY; USHER SYNDROME; VALIDATION STUDY; DNA SEQUENCE; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; PROCEDURES; TRENDS;

EXOME; FEMALE; GENE TARGETING; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENTAL FINDINGS; MALE; SEQUENCE ANALYSIS, DNA;

EID: 84994070666     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.22     Document Type: Article

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