Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Quang Nguyen William Woof Nathaniel KabiriSagnik SenMalena Daich Varela Thales Antonio Cabral de Guimaraes Mital Shah Dayyanah Sumodhee Ismail Moghul Saoud Al-Khuzaei Yichen LiuCatherine HollyheadBhavna TailorLoy LoboCarl VealStephen ArcherJennifer FurmanGavin Arno Manuel Gomes Kaoru Fujinami Savita Madhusudhan Omar A Mahroo Andrew R Webster Konstantinos Balaskas Susan M Downes Michel Michaelides Nikolas Pontikosnull null

Published in: BMJ open (2023)

This research was approved by the IRB and the UK Health Research Authority (Research Ethics Committee reference 22/WA/0049) 'Eye2Gene: accelerating the diagnosis of IRDs' Integrated Research Application System (IRAS) project ID: 242050. All research adhered to the tenets of the Declaration of Helsinki. Findings will be reported in an open-access format.

Keyphrases

artificial intelligence
big data
machine learning
deep learning
copy number
genome wide
genome wide identification
randomized controlled trial
public health
optical coherence tomography
electronic health record
diabetic retinopathy
quality improvement
gene expression
genome wide analysis
drug administration