EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Eva Lenassi, Ana Carolina de Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy A. Fletcher, Claire L. Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I. Sergouniotis, Michel Michaelides, Andrew R. Webster, Fiona M Cunningham, Simon Ramsden, , Jamie M. Ellingford
EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.
Journal of Medical Genetics · Jan 20, 2023Peer-reviewedGenetic & Genomic Medicine