The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)
Erin Zampaglione, Matthew Maher, Emily Place, Naomi E. Wagner, Stephanie P. DiTroia, Katherine R. Chao, Eleina M. England, Broad CMG, Andrew J. Catomeris, Sherwin Nassiri, Seraphim Himes, Joey Pagliarulo, Charles Ferguson, Eglė Galdikaitė, Brian S. Cole, , Kinga M. Bujakowska
The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.
Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine