Limitations of short-read NGS in detecting <i>RP1 Alu</i> insertions: a case emphasizing Sanger confirmation.
Hayashi T; Mizobuchi K; Higa N; Maki H; Kuniyoshi K; Ikeda Y; Kondo M; Saitsu H · 2026 · Ophthalmic genetics
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 To assess the detectability of the pathogenic RP1 Alu insertion using the PrismGuide™ inherited retinal dystrophy (IRD) panel, which targets 82 IRD genes, and whole-exome sequencing (WES). Methods A girl diagnosed with early-onset…
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Metadata source: Europe PMC · DOI 10.1080/13816810.2025.2590162