Diagnostic impact of secondary findings from whole genome or whole exome sequencing in patients diagnosed with genetic eye disorders
Mehta SP; Antonio Aguirre B; See WYN; Esposito EP; Pan A; Applegate C; Guthrie K; Smith CH · 2025 · Preprint
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Purpose Whole exome or genome sequencing (WES and WGS, respectively) can be valuable in identifying the molecular basis of inherited retinal disorders (IRD), particularly when panel-based testing yields negative or inconclusive results.…
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Metadata source: Europe PMC · DOI 10.1101/2025.03.03.25322102