Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
基于基因组测序的遗传性眼病基因诊断检测具有更高的准确性和可重复性，并且对变异检测更为敏感，优于外显子组测序。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2014.172
Consugar, Mark B; Navarro-Gomez, Daniel; Place, Emily M; Bujakowska, Kinga M; Sousa, Maria E; Fonseca-Kelly, Zoë D; Taub, Daniel G; Janessian, Maria; Wang, Dan Yi; Au, Elizabeth D; Sims, Katherine B; Sweetser, David A; Fulton, Anne B; Liu, Qin; Wiggs, Janey L; Gai, Xiaowu; Pierce, Eric A
