Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.
Planello AC; Loureiro T; Alencar-Cupertino D; Bermeo D; Sobreira J; Gomes M; Castro LSS; Villela D · 2025 · Revista da Associacao Medica Brasileira (1992)
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)
Objective This study aimed to evaluate whether the increased use of exome sequencing as a primary next-generation sequencing test provides a higher diagnostic yield compared to multi-gene panels for various clinical indications within a…
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Metadata source: Europe PMC · DOI 10.1590/1806-9282.20250086