Scientific Reports (Nov 2022)

Five years’ experience of the clinical exome sequencing in a Spanish single center

  • A. Arteche-López,
  • A. Ávila-Fernández,
  • R. Riveiro Álvarez,
  • B. Almoguera,
  • A. Bustamante Aragonés,
  • I. Martin-Merida,
  • M. A. López Martínez,
  • A. Giménez Pardo,
  • C. Vélez-Monsalve,
  • J. Gallego Merlo,
  • I. García Vara,
  • F. Blanco-Kelly,
  • S. Tahsin Swafiri,
  • I. Lorda Sánchez,
  • M. J. Trujillo Tiebas,
  • C. Ayuso

DOI
https://doi.org/10.1038/s41598-022-23786-6
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 9

Abstract

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Abstract Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery of many new Mendelian-disease genes, it only provides a molecular diagnosis in up to 25–30% of cases. Here, we comprehensively evaluate the results of a large sample set of 4974 clinical exomes performed in our laboratory over a period of 5 years, showing a global diagnostic rate of 24.62% (1391/4974). For the evaluation we establish different groups of diseases and demonstrate how the diagnostic rate is not only dependent on the analyzed group of diseases (43.12% in ophthalmological cases vs 16.61% in neurological cases) but on the specific disorder (47.49% in retinal dystrophies vs 24.02% in optic atrophy; 18.88% in neuropathies/paraparesias vs 11.43% in dementias). We also detail the most frequent mutated genes within each group of disorders and discuss, on our experience, further investigations and directions needed for the benefit of patients.