Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: A national collaborative study of dutch genome diagnostic laboratories

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1313-1321

  Weiss, Marjan M ^a   Van der Zwaag, Bert ^b   Jongbloed, Jan D H ^c   Vogel, Maartje J ^b   Brüggenwirth, Hennie T ^d   Lekanne Deprez, Ronald H ^e   Mook, Olaf ^e   Ruivenkamp, Claudia A L ^f   van Slegtenhorst, Marjon A ^d   van den Wijngaard, Arthur ^g   Waisfisz, Quinten ^a   Nelen, Marcel R ^h   van der Stoep, Nienke ^f  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Clinical genetic laboratories; Diagnostic routing; Diagnostic yield; NGS guidelines

Indexed keywords

DNA FRAGMENT; GENOMIC DNA;

ARTICLE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; INFORMATION PROCESSING; LABORATORY DIAGNOSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL;

CLINICAL GENETIC LABORATORIES; DIAGNOSTIC ROUTING; DIAGNOSTIC YIELD; NGS GUIDELINES;

CLINICAL LABORATORY TECHNIQUES; DATABASES, GENETIC; GENETIC TESTING; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; NETHERLANDS; PRACTICE GUIDELINES AS TOPIC;

EID: 84884533101     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22368     Document Type: Article

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