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Beau James Fenner on Muck Rack

Beau James Fenner

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Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort - European Journal of Human Genetics

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By Sylvia Kam, Jane Andrea Lieviant, Beau James Fenner
| Nature Verified
Abstract As the discovery of new genes causing inherited retinal disease (IRD) has plateaued, we look to other factors which could be used to maximize diagnostic yield. We analyzed whole-exome sequencing (WES) data from 506 IRD probands, focusing on the interplay between diagnostic yield, age of symptom onset or diagnosis, family history, and initial clinical diagnosis. The cohort’s overall diagnostic yield was 49.2%.
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