Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Ophthalmology

Volumn 123, Issue 5, 2016, Pages 1143-1150

  Ellingford, Jamie M ^a,b   Barton, Stephanie ^a   Bhaskar, Sanjeev ^a   Williams, Simon G ^a   Sergouniotis, Panagiotis I ^a,b,c   O'Sullivan, James ^a,b   Lamb, Janine A ^d   Perveen, Rahat ^a,b   Hall, Georgina ^a   Newman, William G ^a,b   Bishop, Paul N ^b,c   Roberts, Stephen A ^d   Leach, Rick ^e   Tearle, Rick ^e   Bayliss, Stuart ^a   Ramsden, Simon C ^a   Nemeth, Andrea H ^f   Black, Graeme C M ^a,b,c  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e NONE   (United States)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPARATIVE STUDY; CONFERENCE PAPER; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; HUMAN; INHERITED RETINAL DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; OUTCOME ASSESSMENT; POPULATION STRUCTURE; PRIORITY JOURNAL; RETINA DISEASE; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE GENOME SEQUENCING; DNA SEQUENCE; EYE DISEASE; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING;

EYE DISEASES, HEREDITARY; FEMALE; GENOME; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DISEASES; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84957927610     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2016.01.009     Document Type: Conference Paper

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