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September 10, 2025

Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.

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Authors

APAline Cristiane PlanelloTCThereza CavalcantiDADayse Alencar-Cupertino

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Overview

Retrospective analysis shows exome sequencing improves diagnostic yield in Brazilian patients, suggesting challenges with inconclusive results.

Key Points

  • Exome sequencing achieved a diagnostic yield of 32.7%, surpassing that of multi-gene panels.
  • Skeletal and hearing disorders had the highest diagnostic yields at 55% and 50%, respectively, with exome sequencing.
  • Out of 3,025 tests, 1,447 were exome sequencing, showing its growing role in genetic diagnosis.
  • The increase in exome sequencing usage highlighted challenges like a higher rate of inconclusive results due to variants of uncertain significance.

Cite This Study

Planello et al. (2025) studied this question.

synapsesocial.com/papers/68c23b8fb210217d64784edchttps://doi.org/10.1590/1806-9282.20250086
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Diagnostic yield of whole exome sequencing in a cohort of 825 patients2025 · 4 citations
  2. 2Genome sequencing reveals the impact of pseudoexons in rare genetic disease2025
  3. 3Clinical utility of exome sequencing in hearing loss: a retrospective cohort study2025 · 2 citations
  4. 4Diagnostic Yield And Clinical Impact Of Next-Generation Sequencing In A Saudi Tertiary Hospital: A Two-Year Experience2025
  5. 5Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis2025