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 DiTroia, Katherine R. Chao, Eleina England, Broad CMG, Andrew J. Catomeris, Sherwin Nassiri, Seraphim Himes, Joey Pagliarulo, Charles Ferguson, Eglé Galdikaité-Braziené, Brian Cole, Eric A. Pierce, Kinga M. Bujakowska
Topics & Concepts
Mendelian inheritanceCohortRetinal degenerationMacular degenerationGeneticsBioinformaticsRetinalBiologyDegeneration (medical)MedicineComputational biologyGenePathologyOphthalmologyGenomics and Rare DiseasesGenetic Associations and EpidemiologyBRCA gene mutations in cancer