Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
- 20 November 2014
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 17 (4), 253-261
- https://doi.org/10.1038/gim.2014.172
Abstract
No abstract availableKeywords
This publication has 40 references indexed in Scilit:
- Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal DystrophiesPLOS ONE, 2013
- Diagnostic Exome Sequencing: A New Paradigm in NeurologyNeuron, 2013
- Exomes in the clinicNature Reviews Genetics, 2013
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersThe New England Journal of Medicine, 2013
- Genetic Testing for Inherited Eye DiseaseJAMA Ophthalmology, 2013
- Actionable, Pathogenic Incidental Findings in 1,000 Participants’ ExomesAmerican Journal of Human Genetics, 2013
- Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt diseaseHuman Molecular Genetics, 2013
- ACMG clinical laboratory standards for next-generation sequencingGenetics in Medicine, 2013
- Advancing genetic testing for deafness with genomic technologyJournal of Medical Genetics, 2013
- Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: The Copenhagen City Eye StudyOphthalmology, 2004