Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Genetics in Medicine

Volumn 17, Issue 4, 2015, Pages 253-261

  Consugar, Mark B ^a   Navarro Gomez, Daniel ^a   Place, Emily M ^a   Bujakowska, Kinga M ^a   Sousa, Maria E ^a   Fonseca Kelly, Zoë D ^a   Taub, Daniel G ^a   Janessian, Maria ^a   Wang, Dan Yi ^a   Au, Elizabeth D ^a   Sims, Katherine B ^b   Sweetser, David A ^b   Fulton, Anne B ^c   Liu, Qin ^a   Wiggs, Janey L ^a   Gai, Xiaowu ^a   Pierce, Eric A ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

genetic diagnostic testing; next generation sequencing; reproducibility; sensitivity; specificity

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CHEMILUMINESCENCE IMMUNOASSAY; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST ACCURACY STUDY; EXOME; EYE DISEASE; FAMILY HISTORY; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GLAUCOMA; HUMAN; INDEL MUTATION; INHERITED EYE DISEASE; MITOCHONDRIAL GENOME; NEXT GENERATION SEQUENCING; OPTIC NERVE ATROPHY; REPRODUCIBILITY; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TASK PERFORMANCE; EYE DISEASES; GENETIC SCREENING; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PROSPECTIVE STUDY;

EXOME; EYE DISEASES; GENETIC TESTING; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84926488048     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.172     Document Type: Article

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