Journal article

Genome sequencing in congenital cataracts improves diagnostic yield

Alan Ma, John R Grigg, Maree Flaherty, James Smith, Andre E Minoche, Mark J Cowley, Benjamin M Nash, Gladys Ho, Thet Gayagay, Tiffany Lai, Elizabeth Farnsworth, Emma L Hackett, Katrina Slater, Karen Wong, Katherine J Holman, Gemma Jenkins, Anson Cheng, Frank Martin, Natasha J Brown, Sarah E Leighton Show all

HUMAN MUTATION | WILEY | Published : 2021


Congenital cataracts are one of the major causes of childhood-onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we demonstrate the value of genome sequencing in improving diagnostic yield in congenital cataract patients and families. We applied genome sequencing to investigate 20 probands with congenital cataracts. We examined the added value of genome sequencing across a total cohort of 52 probands, including 14 unable to be diagnosed using previous microarray and exome or panel-based approaches. Although exome or genome sequencing would have detec..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

Ophthalmic Research Institute of Australia; National Health and Medical Research Council, Grant/Award Number: APP1116360; NSW Office of Health and Medical Research; Costco