Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

Annual Review of Genomics and Human Genetics

Volumn 17, Issue , 2016, Pages 303-332

  Strande, Natasha T ^a   Berg, Jonathan S ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

clinical diagnostics; genomic medicine; monogenic disorders; next generation sequencing; whole exome sequencing; whole genome sequencing

Indexed keywords

DIAGNOSTIC TEST; DIAGNOSTIC VALUE; EXOME; GENETIC DISORDER; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; INCIDENTAL FINDING; INFORMATION SCIENCE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; REPRODUCIBILITY; REVIEW; DNA SEQUENCE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PATHOLOGY; TRENDS;

GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; SEQUENCE ANALYSIS, DNA;

EID: 84984910831     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-083115-022348     Document Type: Review

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