The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)
自动化在基因诊断中的重要性：利用孟德尔分析工具包（MATK）分析遗传性视网膜变性队列的经验教训
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2021.09.015
Zampaglione, Erin; Maher, Matthew; Place, Emily M; Wagner, Naomi E; DiTroia, Stephanie; Chao, Katherine R; England, Eleina; Cmg, Broad; Catomeris, Andrew; Nassiri, Sherwin; Himes, Seraphim; Pagliarulo, Joey; Ferguson, Charles; Galdikaité-Braziené, Eglé; Cole, Brian; Pierce, Eric A; Bujakowska, Kinga M
