Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.

Richul OhSe Joon WooKwangsic Joo

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2023)

With WGS, the causative variants in 15.6% of unsolved IRDs from the Korean National Project of Bio Big Data were identified. Further research with a larger cohort might unveil the diagnostic usefulness of WGS in IRDs and other diseases.

Keyphrases

big data
quality improvement
artificial intelligence
machine learning
optical coherence tomography
copy number
genome wide