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The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

Zampaglione, Erin, Matthew Maher, Emily Place, Naomi Wagner, Stephanie DiTroia, Katherine Chao, Eleina England, et al. 2022. “The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort With the Mendelian Analysis Toolkit (MATK)”. Genet Med 24 (2): 332-43.