Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewed
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Eva Lenassi, Ana Carolina de Carvalho, Anja Thormann…·Jamie M. Ellingford
EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.
11 citations