Whole-exome sequencing emerges as clinical diagnostic tool: Testing method proves useful for diagnosing wide range of genetic disorders

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages

  Levenson, Deborah ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ASSESSMENT TOOL; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; EXOME; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; GENETIC DISEASES, INBORN; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PROCEDURES;

EXOME; GENETIC DISEASES, INBORN; GENETIC TESTING; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84890741721     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36385     Document Type: Article

References (2)

1. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013. 369:1502-1511.
2. Jacob HJ. Next-generation sequencing for clinical diagnostics. N Engl J Med 2013. 369:1557-1558.