Genome-scale sequencing in clinical care: Establishing molecular diagnoses and measuring value

JAMA - Journal of the American Medical Association

Volumn 312, Issue 18, 2014, Pages 1865-1867

  Berg, Jonathan S ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ACCESS TO INFORMATION; CLINICAL PRACTICE; EDITORIAL; EXOME; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; HEALTH CARE ACCESS; HEALTH CARE QUALITY; HEALTH CARE SYSTEM; HETEROZYGOSITY; HUMAN; MEDICAL DECISION MAKING; MOLECULAR DIAGNOSIS; PHENOTYPE; SENSITIVITY AND SPECIFICITY; DNA SEQUENCE; FEMALE; GENETIC DISEASES, INBORN; MALE; PROCEDURES; RARE DISEASES;

EXOME; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; RARE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84918829278     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.14665     Document Type: Editorial

References (10)

1. Lander ES, Linton LM, Birren B, et al International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome [published correction appears in Nature. 2001;411(6838):720]. Nature. 2001;409 (6822):860-921.
2. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291(5507):1304-1351.
3. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. doi:10.1001/jama.2014.14601.
4. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare mendelian disorders. JAMA. doi:10.1001/jama.2014.14604.
5. Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014;311(10):1035-1045.
6. Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;370(25):2418-2425.
7. Iglesias A, Anyane-Yeboa K, Wynn J, et al. The usefulness of whole-exome sequencing in routine clinical practice [published online June 5, 2014]. Genet Med. 2014. doi:10.1038/gim.2014.58.
8. Fan Z, Greenwood R, Felix AC, et al. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. J Neurol. 2014;261(3):622-624.
9. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13(3):255-262.
10. Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(database issue):D980-D985.