Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Genetics in Medicine

Volumn 13, Issue 11, 2011, Pages 921-932

  Jones, Melanie A ^a   Bhide, Shruti ^a   Chin, Ephrem ^a   Ng, Bobby G ^b   Rhodenizer, Devin ^a   Zhang, Victor W ^a   Sun, Jessica J ^a   Tanner, Alice ^a   Freeze, Hudson H ^b   Hegde, Madhuri R ^a,c  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BURNHAM INSTITUTE   (United States)

^c Whitehead Biomedical Research Building   (United States)

Author keywords

bioinformatics; congenital disorders of glycosylation; molecular diagnostic testing; next generation sequencing; target enrichment

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; HUMAN; INFANT; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEIC ACID ANALYSIS; POLYMERASE CHAIN REACTION; RELIABILITY; TECHNOLOGY; VALIDATION PROCESS;

BASE SEQUENCE; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TIME FACTORS;

EID: 80755125865     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318226fbf2     Document Type: Article

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