A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1721-1726

  Neveling, Kornelia ^a   Feenstra, Ilse ^a   Gilissen, Christian ^a,b,c   Hoefsloot, Lies H ^a   Kamsteeg, Erik Jan ^a   Mensenkamp, Arjen R ^a   Rodenburg, Richard J T ^a,b   Yntema, Helger G ^a   Spruijt, Liesbeth ^a   Vermeer, Sascha ^a   Rinne, Tuula ^a   van Gassen, Koen L ^a   Bodmer, Danielle ^a   Lugtenberg, Dorien ^a   de Reuver, Rick ^a   Buijsman, Wendy ^a   Derks, Ronny C ^a   Wieskamp, Nienke ^a   van den Heuvel, Bert ^a,b   Ligtenberg, Marjolijn J L ^a   Kremer, Hannie ^a,b   Koolen, David A ^a   van de Warrenburg, Bart P C ^a   Cremers, Frans P M ^a,b   Marcelis, Carlo L M ^a   Smeitink, Jan A M ^a,b   Wortmann, Saskia B ^a   van Zelst Stams, Wendy A G ^a   Veltman, Joris A ^a,b   Brunner, Han G ^a,b   Scheffer, Hans ^a   Nelen, Marcel R ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Diagnostic yield; Exome sequencing; Genome diagnostics; Heterogeneous diseases; NGS

Indexed keywords

ARTICLE; BIOINFORMATICS; BLINDNESS; COLORECTAL CANCER; COMPARATIVE STUDY; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; EXOME SEQUENCING; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MOTOR DYSFUNCTION; POST HOC ANALYSIS; PRIORITY JOURNAL; SANGER SEQUENCING;

DIAGNOSTIC YIELD; EXOME SEQUENCING; GENOME DIAGNOSTICS; HETEROGENEOUS DISEASES; NGS;

EXOME; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; SEQUENCE ANALYSIS, DNA;

EID: 84887617035     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22450     Document Type: Article

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