Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

D.M. Panneman; R.J. Hitti-Malin; L.K. Holtes; S.E. de Bruijn; J. Reurink; EGM Boonen; M.I. Khan; M. Ali; S. Andréasson; E. De Baere; S. Banfi; M. Bauwens; T. Ben-Yosef; B. Bocquet; M. De Bruyne; B. de la Cerda; F. Coppieters; P. Farinelli; T. Guignard; C.F. Inglehearn; M. Karali; U. Kjellström; R. Koenekoop; B. de Koning; B.P. Leroy; M. McKibbin; I. Meunier; K. Nikopoulos; K.M. Nishiguchi; J.A. Poulter; C. Rivolta; E. Rodríguez de la Rúa; P. Saunders; F. Simonelli; Y. Tatour; F. Testa; AAHJ Thiadens; C. Toomes; A.M. Tracewska; H.V. Tran; H. Ushida; V. Vaclavik; VJM Verhoeven; M. van de Vorst; C. Gilissen; A. Hoischen; FPM Cremers; S. Roosing

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

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Date

2023

Discipline

Economies et finances

Type de document

Articles

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Publications

Langue

Anglais

Identifiants

doi: 10.3389/fcell.2023.1112270
issn: 2296-634X

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Serveur académique Lausannois

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Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2023.1112270

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/36819107

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pissn/2296-634X

Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_09C3E6B613E50

Collection

Serveur Académique Lausannois

Organisation

Université de Lausanne et CHUV

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info:eu-repo/semantics/openAccess , CC BY 4.0 , https://creativecommons.org/licenses/by/4.0/

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cost-effective; high-throughput; inherited retinal diseases; smMIPs; targeted gene sequencing

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Methods of analysis Analysis and chemistry Analytical methods Chemical analysis Analysis methods Analysis and examination

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D.M. Panneman et al., « Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. », Serveur académique Lausannois, ID : 10.3389/fcell.2023.1112270

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Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

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