학술논문
Five years' experience of the clinical exome sequencing in a Spanish single center.
Document Type
Article
Author
Arteche-López, A.; Ávila-Fernández, A.; Riveiro Álvarez, R.; Almoguera, B.; Bustamante Aragonés, A.; Martin-Merida, I.; López Martínez, M. A.; Giménez Pardo, A.; Vélez-Monsalve, C.; Gallego Merlo, J.; García Vara, I.; Blanco-Kelly, F.; Tahsin Swafiri, S.; Lorda Sánchez, I.; Trujillo Tiebas, M. J.; Ayuso, C.
Source
Subject
*DYSTROPHY
*RETINAL degeneration
*MOLECULAR diagnosis
*EXOMES
*PATHOLOGICAL laboratories
*DEMENTIA
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Language
ISSN
2045-2322
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. [ABSTRACT FROM AUTHOR]