Five Years' Experience of the Clinical Exome Sequencing in a Spanish Single Center

Overview

Journal Sci Rep

Specialty Science

Date 2022 Nov 10

PMID 36357507

Authors

A Arteche-Lopez

A Avila-Fernandez

R Riveiro Alvarez

B Almoguera

A Bustamante Aragones

I Martin-Merida

M A Lopez Martinez

A Gimenez Pardo

C Velez-Monsalve

J Gallego Merlo

I Garcia Vara

F Blanco-Kelly

S Tahsin Swafiri

I Lorda Sanchez

M J Trujillo Tiebas

C Ayuso

Affiliations

Soon will be listed here.

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.

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