Whole-exome sequencing as a diagnostic tool: Current challenges and future opportunities

Expert Review of Molecular Diagnostics

Volumn 15, Issue 6, 2015, Pages 749-760

  Tetreault, Martine ^a,b   Bareke, Eric ^a,b   Nadaf, Javad ^a,b   Alirezaie, Najmeh ^a,b   Majewski, Jacek ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Cancer; diagnostic; rare diseases; variants detection; Whole exome sequencing

Indexed keywords

ALZHEIMER DISEASE; AUTISM; CANCER DIAGNOSIS; CANCER GENETICS; CLINICAL LABORATORY; COMPLEX DISEASE; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; DISEASES; EXOME; FILTRATION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEOPLASM; PATIENT CARE; QUALITY CONTROL; RARE DISEASE; REVIEW; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; DISEASE MANAGEMENT; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; NEOPLASMS; PROCEDURES; RARE DISEASES; STANDARDS;

DISEASE MANAGEMENT; EXOME; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; NEOPLASMS; RARE DISEASES;

EID: 84929908474     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.1039516     Document Type: Review

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