Interpreting whole-genome sequencing

JAMA

Volumn 312, Issue 3, 2014, Pages 296-

  Grody, Wayne W ^a   Vilain, Eric ^a   Nelson, Stanley F ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGE DISTRIBUTION; CLINICAL MEDICINE; COHORT ANALYSIS; DIAGNOSTIC VALUE; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LETTER; MOLECULAR GENETICS; PRIORITY JOURNAL; REPRODUCIBILITY; SAMPLE SIZE; DNA SEQUENCE; FEMALE; GENETICS; HUMAN GENOME; MALE; METHODOLOGY; MUTATION; NOTE; PHARMACOGENETICS;

FEMALE; GENOME, HUMAN; HUMANS; MALE; MUTATION; PHARMACOGENETICS; SEQUENCE ANALYSIS, DNA;

EID: 84904262215     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.6602     Document Type: Letter

References (4)

1. Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014;311(10):1035-1045.
2. McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5(189):189sr4.
3. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502-1511.
4. Strom SP, Lee H, Das K, et al. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory [published online January 9, 2014]. Genet Med. doi:10.1038/gim.2013. 183.