EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Eva LenassiAna CarvalhoAnja ThormannLiam AbrahamsGavin ArnoTracy FletcherClaire HardcastleJavier LopezSarah E HuntPatrick ShortPanagiotis I SergouniotisMichel MichaelidesAndrew WebsterFiona CunninghamSimon C RamsdenDalia KasperaviciuteDavid R Fitzpatricknull nullGraeme C BlackJamie M Ellingford

Published in: Journal of medical genetics (2023)

Automated filtering of genomic variants through EyeG2P can increase the efficiency of diagnostic testing for individuals with a broad range of inherited ophthalmic disorders.

Keyphrases

copy number
machine learning
deep learning
genome wide
dna methylation