Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA.
Consugar MB, et al. Among authors: wiggs jl.
Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.
Genet Med. 2015.
PMID: 25412400
Free PMC article.