Clinical whole-exome sequencing: Are we there yet?

Genetics in Medicine

Volumn 16, Issue 9, 2014, Pages 717-719

  Atwal, Paldeep Singh ^a   Brennan, Marie Louise ^a   Cox, Rachel ^a   Niaki, Michael ^a   Platt, Julia ^a   Homeyer, Margaret ^a   Kwan, Andrea ^a   Parkin, Sylvie ^a   Schelley, Susan ^a   Slattery, Leah ^a   Wilnai, Yael ^a   Bernstein, Jonathan Adam ^a   Enns, Gregory M ^a   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

causal mutation WES; clinical practice; clinical utility; WES success rate; whole exome sequencing (WES)

Indexed keywords

ACCURACY; ARTICLE; CLINICAL LABORATORY; COST; GENE MUTATION; GENE SEQUENCE; HEALTH INSURANCE; HUMAN; TURNAROUND TIME; WHOLE EXOME SEQUENCING; EXOME; GENETIC DISEASES, INBORN; GENETIC SCREENING; GENETICS; HEALTH CARE SURVEY; HIGH THROUGHPUT SEQUENCING;

EXOME; GENETIC DISEASES, INBORN; GENETIC TESTING; HEALTH CARE SURVEYS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84907853172     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.10     Document Type: Article

References (2)

1. Eng CM, Gibbs RA, Beaudet AL, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369: 1502-1511.
2. Need AC, Shashi V, Hitomi Y, et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 2012;49:353-361.